(1) | 0007 | ICCBH2019 | 9th International Conference on Children's Bone Health

ba0007p1 | (1) | ICCBH2019

Abstract withdrawn....

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ba0007p2 | (1) | ICCBH2019

Treatment of partial growth arrest using cylindrical costal osteochondral graft

Objective: Growth plate injury can lead the development of angular deformities and limb length discrepancies in growing children. Current several treatments cant regenerate the damaged cartilage adequately. In this study, we investigated the feasibility of the transplantation of cylindrical costal osteochondral graft to establish a new regenerative treatment for growth arrest.Methods: An experimental model of partial growth plate injury was created...

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ba0007p3 | (1) | ICCBH2019

Abstract withdrawn....

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ba0007p4 | (1) | ICCBH2019

Applicability of the Tanner-Whitehouse 3 method to United Kingdom children born in the 21st century

Alshamrani Khalaf , Offiah Amaka

Background: To assess the effect of secular change on skeletal maturation and thus on the applicability Tanner and Whitehouse (TW3) methods of bone age estimation.Methods: A single observer assessed bone age using BoneXpert software on 392 hand/wrist trauma radiographs (206 males, 257 left, age range 2 to 15 years, 296 Caucasians, 71 Asians, 20 Africans, 5 mixed Caucasian and Asian) performed in the period 20102016. The paired sample t test was use...

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ba0007p5 | (1) | ICCBH2019

Response of bone to mechanical stimulation in the offspring of MAVIDOS study mothers in a single centre; the effect of antenatal vitamin D supplementation

Gopal Sujatha , Rigby Alan , Moon Rebecca , Cooper Cyrus , Harvey Nick , Harrison Rachel , Bishop Nick

Background: Preclinical model studies suggest early life vitamin D depletion reduces bones response to mechanical loading. The MAVIDOS trial (randomised placebo controlled trial of vitamin D supplementation in pregnancy) reported winter-born infants of mothers receiving vitamin D supplementation had higher bone mass; the earlier Southampton Princess Ann Cohort study linked pregnancy blood vitamin D levels to later bone mass and size. We showed previously that bone respon...

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ba0007p6 | (1) | ICCBH2019

Pseudohypoparathyroidism type Ib initially masquerading as epileptic seizures due to Fahr's disease

Kutilek Stepan , Plasilova Ivana

Background: Hypocalcaemia can be manifested by paresthesia, muscle cramps, muscle weakness, syncope, convulsions and even severe psychomotor retardation. Suchs symptoms can be initially considered as signs of epilepsy. Fahrs disease is neurological disorder with neuropsychic changes and convulsions. Fahrs disease is characterized by central nervous system calcifications caused by mutations in SLC20A2 gene, encoding sodium-dependent phosphate transporter 2 (PiT-2) t...

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ba0007p7 | (1) | ICCBH2019

Bone morphology patterns in children with osteogenesis imperfecta

Citron Kate , Yonko Elizabeth , Khan Sobiah , Carter Erin , Jepsen Karl , Raggio Cathleen

Objectives: The objective of this study is to characterize patterns of bone morphology in children with osteogenesis imperfecta (OI), using measurements of the second metacarpal. A secondary objective is to look for impact of bisphosphonate treatment on bone morphology in this population.Methods: This is an IRB-approved retrospective review of 82 de-identified bone age films (AP hand/wrist) for 42 children with OI (17M, 25F). Measurements (Sectra IDS 7 P...

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ba0007p8 | (1) | ICCBH2019

Polyhydramnios: sole risk factor for non-traumatic fractures in two infants

Nadeau Genevieve , Olivier Patricia , Fiscaletti Melissa , Campeau Philippe , Alos Nathalie

Bone loading is a primary determinant of bone strength in later childhood and adulthood. Our understanding of how mechanical stimuli generated by foetal kicking and movements impact skeletal development is still limited. Many studies suggest that a sufficient and balanced supply of energy, proteins, vitamins, calcium, phosphorus, and other nutrients is an essential prerequisite for normal bone development. However, only few studies highlight the contribution of the biomechanic...

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ba0007p9 | (1) | ICCBH2019

Do lifestyle factors play a role on bone health in boys diagnosed with Autism Spectrum Disorder? Preliminary data from the Promoting bone and gut health in our children (PROUD) study

Duckham Rachel L , Hyde Natalie K , Brennan-Olsen Sharon L , Hesketh Kylie , Teo Wei-Peng , Rodda Christine , Walsh Adam , Laing Emma M , Lewis Richard D

Objective: Autism Spectrum Disorder (ASD) is associated with lower bone mass in children. Physical activity and nutrition influence bone pathophysiology, and differences in these lifestyle factors are observed between children with vs. without ASD; however, whether these factors contribute to bone differences is unknown. We examined if: 1) differences existed in bone mineral density (BMD), content (BMC), or bone geometry in boys with vs without ASD and 2) whether physical acti...

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ba0007p10 | (1) | ICCBH2019

Radiographic evidence of zoledronic acid given during pregnancy – a case report

Peacock Amanda , Offiah AC , Balasubramanian Meena , Bishop Nick , Arundel Paul

Background: A 3.2 year old boy was reviewed following 2 low trauma femoral fractures. He had been born at 31 weeks gestation, his mother having been diagnosed with metastatic breast cancer at 12 weeks gestation. She received chemotherapy at 20 weeks gestation and was given intravenous zoledronic acid (ZA) during the second trimester for hypercalcaemia.Presenting problem: At 2.7 years, he fell on a tarmacked surface sustaining a diaphyseal fracture of his...

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ba0007p11 | (1) | ICCBH2019

Reference values of cortical thickness, bone width, and Bone Health Index in metacarpals of children from age 0 y, as determined with an extension of the fully automated BoneXpert bone age method

Thodberg Hans Henrik , Thrane Peter , Martin David D.

Objective: The BoneXpert method for automated bone age determination from hand X-rays also determines the cortical thickness T and the bone width W in the three middle metacarpals. From these, the method derives the cortical area A=π W T (1 T/W), the metacarpal index MCI =A/(WW) and the Bone Health Index. Recently, the method has been extended down to new-borns, and the aim of this study is to report reference curves for these bone measures.M...

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ba0007p12 | (1) | ICCBH2019

Abstract withdrawn....

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ba0007p13 | (1) | ICCBH2019

Clinical implications of modeling the maturational spurt

Boeyer Melanie , Leary Emily , Sherwood Richard , Duren Dana

Objective: The treatment of many skeletal growth and/or developmental disorders often relies on a childs biological maturity status, frequently determined by a skeletal maturity assessment. Rapid changes in the rate of skeletal maturation (i.e., the maturational spurt) during adolescence can significantly influence biological maturity status, affecting treatment type and timing as well as clinical outcomes. However, the chronological age at which peak maturational veloci...

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ba0007p14 | (1) | ICCBH2019

Bone health in children with congenital heart disease

Erlandson Marta , Baril Chantelle , Runalls Shonnah , Lahti Dana , Wright Kristi , Pockett Chrissa , Bradley Tim , Kakadekar Ashok , Pharis Scott , Tomczak Corey

Objectives: Children with congenital heart disease (CHD) have been found to have markedly low levels of physical activity (PA) compared to typically developing peers. It is well known that PA during the growing years has a beneficial effect on bone health with the most active children laying down more bone than their less active peers. If children with CHD are avoiding PA, current and future bone health may be compromised; however, very little is known of the bone health of ch...

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ba0007p15 | (1) | ICCBH2019

TA-46 prevents premature synchondrosis and restores foramen magnum size in a mouse model of achondroplasia

Garcia Stephanie , Rignol Guylene , Goncalves Diogo , Dellugat Pierre , Tosello Lionel , Marsault Raphael , Stavenhagen Jeff , Santarelli Luca , Gouze Elvire

Objectives: Achondroplasia, the most common form of short limb dwarfism, is a rare genetic disorder caused by a gain-of-function mutation of the FGFR3 receptor (FGFR3-G380R) and there are currently no effective treatments available. We have developed TA-46, a recombinant human soluble FGFR3(sFGFR3) form of the FGFR3 cell surface receptor containing an extra-cellular ligand-binding domain, including three IgG domains, which confer binding specificity. TA-46 is designed to block...

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ba0007p16 | (1) | ICCBH2019

Higher neonatal bone mineral content and lower IL-6 levels in offspring of overweight/obese women following antenatal exercise: The IMPROVE randomized controlled trial (RCT)

Seneviratne SN , Derraik JGB , Jiang Yannan , Gusso Silmara , Rodrigues RO , Peres Geovana , Biggs Janene , Craigie Susan , McCowan Lesley , Parry Graham , Ekeroma Alec , Cutfield WS , Hofman PL

Objectives: The in-utero environment affects fetal development and health and disease risk in adulthood1. Maternal obesity during pregnancy is associated with low-grade inflammation and long-term offspring health risks2. Pro-inflammatory adipocytokines (TNF-α/IL-6) are linked with later obesity, insulin resistance and osteoporosis3 4, while low early-life bone mineral content (BMC) is associated with osteoporosis5. We assessed the impact o...

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ba0007p17 | (1) | ICCBH2019

Sex and maturation effects on trabecular and cortical microarchitecture in children and young adults

Aye Tandy , Long Jin , Kent Kyla , Whalen Jessica , Strickland Ariana , Burghardt Andrew , Leonard Mary B

The impact of sex and maturation on trabecular (Tb) and cortical (Ct) microarchitecture in children and young adults has not been well established. The new second-generation high-resolution peripheral quantitative CT (HR-pQCT) scanner (XCT II, Scanco Medical) incorporates three important advances to provide greater spatial resolution, direct measures of Tb thickness and spacing and measures in the Ct midshaft. The aim of this study was to identify sex and maturation effects on...

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ba0007p18 | (1) | ICCBH2019

Bone mass and fracture prevalence in childhood brain cancer survivors (CBCS) 2 or 5 years after off therapy

Di Iorgi Natascia , Gallizia Annalisa , Mauro Vera , Crocco Marco , Garre Maria Luisa , Maghnie Mohamad

Background and aim: Multifaceted risk factors impair bone mass in childhood cancer survivors. Aims of the study were to evaluate bone mass and its determinant and fracture prevalence in CBCS 2 (G+2) or 5 (G+5) years after off therapy (OT).Methods: Seventy-three (G+2) and 87 (G+5) CBCS were evaluated at 12.9±4.2 and 14.9±4.4 yrs, respectively. Diagnoses were: astrocytic (G+2:n=25, G+5:n=24), embryonal (G+2:n=28, ...

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ba0007p19 | (1) | ICCBH2019

Progresive-deforming form of osteogenesis imperfecta in neonates – own experience

Jakubowska-Pietkiewicz Elżbieta , Rusińska Agnieszka , Michałus Izabela , Chlebna-Sokoł Danuta , Bartosik Paulina , Woźniak Elżbieta , Haładaj Katarzyna

Fractures of long bone and ribs in the neonatal period may be expression of genetic disturbances of collagen type I production. The aim of the study was to present clinical symptoms, laboratory, radiological and densitometric data in 27 newborns with osteogenesis imperfecta type III.Methods: Medical history, clinical examination and radiographs of 27 children hospitalized in the Department of Paediatrics, Neonatal Pathology and Bone Metabolism Diseases w...

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ba0007p20 | (1) | ICCBH2019

Abstract withdrawn....

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ba0007p21 | (1) | ICCBH2019

Efficacy and safety of intravenous infusion of ibandronic acid in children with osteogenesis imperfecta

Awadalla Shokery

Introduction: Osteogenesis Imperfecta (OI) in children has been treated with different types of biphosphonates between which Pamidronate has been the most used. Zolodronic acid has shown igual efficacy, but few studies have used ibandronic acid infusion in children.Objective: To show efficacy and safety of ibandronic acid infusión in preventing fractures in children with OI.Methods: 12 children with ages between 2 and 6 years ...

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ba0007p22 | (1) | ICCBH2019

Tibia microarchitecture in children with recent fractures

Moon Rebecca , Gillespie Tom , Quiney Naomi , Cooper Cyrus , Harvey Nicholas , Davies Justin

Objectives: Children who fracture have lower bone mineral density (BMD) measured by dual energy X-ray absorptiometry (DXA) than children who do not sustain fractures, but there is little data on bone microarchitecture in relation to childhood fracture. We assessed tibia microarchitecture using high resolution peripheral quantitative computed tomography (HR-pQCT) in children with recent fracture and those without a history of fracture.Methods: Children ag...

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ba0007p23 | (1) | ICCBH2019

What happens to the skeleton at the time of diagnosis of paediatric cancer?

Doulgeraki Artemis , Nikita Maria , Kanaka-Gantenbein Christina , Baka Margarita , Karavanaki Kyriaki , Athanasopoulou Helen , Polyzois George , Tsentidis Charalampos , Kossiva Lydia

Objectives: To evaluate the skeletal profile of paediatric patients with cancer at diagnosis.Methods: Children diagnosed with cancer in our Oncology Centre were recruited during a fifteen-month period and underwent metabolic bone profile and dual-energy X-ray absorptiometry (DXA) at the time of diagnosis. Subsequently, they were divided in two subgroups, according to diagnosis; haematological malignancy vs solid tumour. For comparison, a group of 38 sex ...

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ba0007p24 | (1) | ICCBH2019

The role of the RACK1-c-Src axis in regulation of osteoclast function

Park Jin Hee , Jeong Eutteum , Lee Soo Young

Activation of p38 MAPK by RANKL is regulated by the scaffolding protein receptor for activated C-kinase 1 (RACK1) in osteoclast precursors, whereas it is unclear whether RACK1 can also affect in mature osteoclasts. In this study, to identify that the interaction of RACK1 with c-Src is essential for osteoclast function, we generated several mutants affecting the RACK1-c-Src association. A RACK1 mutant protein (mutations of tyrosine 228 and 246 residues to phenylalanine) disrupt...

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ba0007p25 | (1) | ICCBH2019

Short term mechanical stimulation using whole body vibration identifies differences in bone response between prepubertal boys with and without prior fracture

Harrison Rachel , Ward Kate , Rigby Alan , Gossiel Fatma , Bishop Nick

Objectives: Previously we have shown in healthy pre-pubertal boys that short periods of whole body vibration (WBV) increased the bone formation marker PINP by 25.1% and resorption marker CTX by 10.9%. The aim of this study was to see if otherwise healthy boys with a history of fracture would respond to WBV in the same way.Methods: In addition to 11 pre-pubertal boys measured previously in the same way, 20 pre-pubertal boys aged 7-13 years, who were at le...

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ba0007p26 | (1) | ICCBH2019

Parathyroid hormone is higher in infants with fracture as opposed to without fracture undergoing skeletal survey for suspected non-accidental injury, and is inversely associated with mean corpuscular haemoglobin content

Lewis Lindsay , Alison Lilias , Hardisty Hannah , Parry-Okeden Sophie , Bishop Nick

Background: Biochemical and haematological testing is recommended in the United Kingdom when non-accidental injury is suspected. We examined the associations of test results with radiologically-confirmed fracture(s), and between test results, in a retrospective observational cohort.Methods: Infants up to age two years presenting with suspected non-accidental injury, without clinically-apparent bone disease, and where a skeletal survey was undertaken duri...

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ba0007p27 | (1) | ICCBH2019

Response to mechanical stimulation of bone in children with osteogenesis imperfecta and the effect of bisphosphonate therapy

Sithambaran Sivagamy , Gopal Sujatha , Harrison Rachel , Gossiel Fatma , Rigby Alan , Bishop Nick

Objectives: Children with osteogenesis imperfecta (OI) suffer fragility fractures due to altered bone mass, architecture and material quality. Management is multidisciplinary, often including bisphosphonates and physiotherapy. We wished to determine whether bisphosphonates altered the skeletal response to mechanical stimulation in OI. Short term exposure to whole body vibration (WBV) in apparently healthy children results in increases in bone formation and resorption markers, ...

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ba0007p28 | (1) | ICCBH2019

Duchenne muscular dystrophy: preliminary results of the Risbo-DMD study

Broggi Francesca , Vai Silvia , Baranello Giovanni , Sansone Valeria Sansone , D'Angelo Grazia , Pane Marika , Vita Gianluca , Bianchi Maria Luisa

Introduction: Reduced bone mineral density [BMD] and increased fracture risk are common complications in all conditions characterized by severely reduced physical activity and/or requiring long-term glucocorticoid [GC] treatment, including Duchenne Muscular Dystrophy [DMD].Objectives: The RisBo-DMD study (EudraCT 2011-005745-12) is a 24-month prospective multicenter study, aimed at identifying DMD patients at higher risk of fractures and improving the bo...

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ba0007p29 | (1) | ICCBH2019

Rib cage anomalies in a cohort of osteogenesis imperfecta patients

Zhytnik Lidiia , Maasalu Katre , Duy Binh Ho , Prans Ele , Reimann Ene , Koks Sulev , Martson Aare

Osteogenesis Imperfecta (OI) is a rare congenital disorder of bone fragility. Majority of OI cases are caused by loss of function or missense pathogenic variants in the COL1A1/2 genes. In addition to fractures, patients suffer from different, mainly long bone, skeletal deformities. OI patients might develop chest deformities (pectus carinatum (PC) or excavatum (PE)) of different severity, which can tend to formation of cardiopulmonary complications. The main aim of current stu...

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ba0007p30 | (1) | ICCBH2019

Bone mass, sclerostin and body composition in women with anorexia nervosa: a 3-year follow-up after weight gain therapy

Svedlund Anna , Tubic Bojan , Pettersson Cecilia , Elfvin Anders , Ellegard Lars , Magnusson Per , Swolin-Eide Diana

Objectives: Patients with anorexia nervosa (AN) are at high risk of reduced bone mass. The aim of this intervention study was to investigate the long-term effects on bone and body composition three years after intense weight gain therapy.Methods: Twenty-five female AN patients, mean age 20.1 years, mean BMI of 15.5 kg/m2, were included. Twenty-two patients fulfilled the treatment for 12 weeks with a high-energy diet. Body composition and bone ...

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ba0007p31 | (1) | ICCBH2019

Determinants of survival in osteogenesis imperfecta (OI) Type II

Nadar Ruchi , Saraff Vrinda , Hogler Wolfgang , Desai Maya , Shaw Nick

Introduction: In 1979 Sillence described Type II OI as perinatal lethal. We report two children whose features were consistent with Type II OI who survived beyond infancy. Both have mutations previously reported in cases of lethal OI.Case 1: This girl was born full term, small for gestational age (SGA) following antenatal detection of short bowed femora. Skeletal survey showed multiple long bone fractures and a small chest with beaded ribs. A COL1A2 gene...

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ba0007p32 | (1) | ICCBH2019

Successful use of oral acetazolamide in symptomatic subcutaneous calcifications in hyperphosphatemic tumoral calcinosis

Nadar Ruchi , Saraff Vrinda , Randell Tabitha , Ryan Fiona , Shaw Nick , Hogler Wolfgang

Introduction: Hyperphosphatemic familial tumoral calcinosis is a rare genetic disorder causing reduced FGF23 activity. Recurrent and occasionally disabling subcutaneous calcifications are major disease manifestations. We describe the successful use of acetazolamide in two cases presenting in childhood with a homozygous GALNT3 mutation.Case 1: A five year old girl developed tender subcutaneous calcifications in the right elbow which were surgically resect...

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ba0007p33 | (1) | ICCBH2019

Unusual case of severe hypophosphataemic rickets and renal stones associated with valproate use

Pintus Donatella , Bhowmik Sudeshna , Ramakrishnan Renuka

Background: Hypophosphataemic rickets has been reported in patients on long term sodium valproate. This is usually due to proximal renal tubulopathy (RT). Distal RT or renal stones have not previously been reported.Presenting problem: We report the case of a 6 year old female with complex background (severe global developmental delay, epilepsy, PEG fed), on long term sodium valproate, who developed chronic hypophosphatemia and sustained a low impact femo...

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ba0007p34 | (1) | ICCBH2019

Bone metabolism and bone mineral density in Duchenne muscular dystrophy

Bautembach-Minkowska Joanna , Śledzińska Karolina , Wierzba Jolanta , Myśliwiec Małgorzata

Duchenne muscular dystrophy (DMD) is associated with an increased risk of bone fragility due to the adverse effects of prolonged glucocorticoid therapy and progressive muscle weakness on bone strength. The resultant osteoporosis, which predisposes to fragility fractures of both long bones and vertebrae, is a major cause for concern. We studied 70 boys with DMD mean age 10.74±3.83 years. Bone mineral density was measured by DXA scan on lumbar spine and total body and conte...

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ba0007p35 | (1) | ICCBH2019

Atypical fractures in pediatric patients with osteogenesis imperfect treated with zoledronic acid

Lucia Bremer Alheli , Clark Patricia

Overall objective: To describe the incidence and relationship between the period of application of zoledronic acid and the presence of atypical diaphyseal fractures and subtrochanteric pattern in pediatric patients with osteogenesis imperfecta in the Mexican population.Method: Type of study: Ambispective cohort in pediatric patients with a diagnosis of osteogenesis imperfecta. Prognostic variable: duration of treatment with AZ Outcome variable: presence ...

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ba0007p36 | (1) | ICCBH2019

ALPL gene mutation in a family

Vai Silvia , Broggi Francesca , Luisa Bianchi Maria , Ponti Emanuela , Mihalich Alessandra , Maria Di Blasio Anna

Introduction: The clinical diagnosis of mild forms of hypophosphatasia [HPP], a rare genetic bone disease, is often made in adulthood, on the basis of persistently low serum levels of alkaline phosphatase [ALP], often coupled with signs of poor bone/teeth mineralization.Case report: A 50-year-old male on treatment with vitamin D supplementation because of osteoporosis of lumbar spine (T-score 3.2) and femoral neck (T-score 2.4), was referred ...

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ba0007p37 | (1) | ICCBH2019

Generation of osteogenesis imperfecta type XIV zebrafish models

Leoni Laura , Tonelli Francesca , Cotti Silvia , Giannini Gabriella , Daponte Valentina , Gioia Roberta , Besio Roberta , Garibaldi Nadia , Rossi Antonio , Forlino Antonella

Objectives: Osteogenesis Imperfecta (OI) type XIV is a recessive OI form characterized by bone fragility, multiple fractures and growth retardation. It is caused by mutation in TMEM38B gene encoding the endoplasmic reticulum (ER) channel TRIC-B. This channel allows the transport of K+ across the ER membrane modulating Ca2+ flux. Defective ER Ca2+ impaires collagen type I synthesis, likely affecting the activity of ER enzymes involved in its post translational modification. To ...

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ba0007p38 | (1) | ICCBH2019

Clinical features and approach to treatment in pediatric patients with McCune-Albright syndrome: monocentric experience

Makazan Nadezhda , Orlova Elizaveta , Kareva Maria , Kolodkina Anna , Kalinchenko Natalia , Petrov Michael , Zubkova Natalia , Peterkova Valentina

McCune-Albright-Syndrome (MAS) is a rare multisystem disorder presenting with polyostotic fibrous dysplasia accompanied by a list of extraskeletal features including café-aulait spots and various endocrine hyperfunctioning. There is no effective treatment for FD in MAS nowadays. Patients with MAS (n=60, 49 girls(G) and 11 boys (B) have been diagnosed and followed up during 20 years in the Institute of Pediatric Endocrinology. First clinical manifestations were pe...

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ba0007p39 | (1) | ICCBH2019

Bone health outcomes in children with Duchenne Muscular Dystrophy

Chua Verene , Munns Craig , Biggin Andrew

Objectives: Deteriorating bone mineral density and fragility fractures are common complications of Duchenne Muscular Dystrophy (DMD). This study aims to evaluate the effects of bisphosphonate therapy and testosterone supplementation (for pubertal induction) on the bone health of children with DMD.Methods: This retrospective cohort study examined the clinical records of children with DMD managed at the Neurogenetics and Endocrine clinics at The Children&#...

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ba0007p40 | (1) | ICCBH2019

Stature and body weight more than age explain functionality level in children with Osteogenesis Imperfecta

Claudio de Castro Luiz , De David Ana , Coelho Giovana , Coccato Livia

Objective: The purpose of this study was to verify the influence of age, body mass and stature on the functionality level of children with Osteogenesis Imperfecta (OI). METHODS: Thirty-eight children (8.21±4.26 years, 19 girls and 52.6% OI type III) were evaluated during their hospitalization for Pamidronate intravenous infusion in the Brazilian Midwest reference hospital for OI treatment (University Hospital of Brasília). Body weight and stature were measured and ca...

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ba0007p41 | (1) | ICCBH2019

Increased prevalence of fractures in poorly chelated children with beta thalassemia

Palande Sonal , Ekbote Veena , Padidela Raja , Mughal Zulf , Khadilkar Anuradha , Khadilkar Vaman , Kariki Eleni , Crabtree Nicola

Objectives: Patients with beta Thalassemia have been reported to have low bone mass; poorly chelated patients are likely to be at an even higher risk. Pubertal delay, hypogonadism, and reduced physical activity and sunlight exposure are likely to be additional contributors to poor bone health and increased fracture risk. The objective of our study was to assess the prevalence of fractures in Indian underprivileged, poorly chelated thalassaemic children.M...

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ba0007p42 | (1) | ICCBH2019

FGF 23 measurements in children with fibrous dysplasia: useful or not?

Huma Zilla , Mackinnon Natasha , Aston Will , Pollock Rob

Fibrous dysplasia is a mosaic disease resulting from post-zygotic activating mutations of the GNAS locus which codes for the α subunit of the Gs G-coupled protein receptor. In bone, impaired signalling results in impaired differentiation and proliferation of bone marrow stromal cells which are replaced by fibrous tissue resulting in bone fragility and dysplasia. All children diagnosed with Fibrous Dysplasia at The Royal National Orthopaedic Hospital since 2009 (103 childr...

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ba0007p43 | (1) | ICCBH2019

Bone health is compromised in adult patients with childhood-onset autoimmune-polyendocrinopathy-candiadis-ectodermal dystrophy (APECED)

Laakso Saila , Borchers Joonatan , Toiviainen-Salo Sanna , Makitie Outi

Objectives: Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is an autosomal-recessive disorder caused by mutations in the autoimmune regulator gene resulting in insufficient suppression of autoimmunity. The impact of immunological abnormalities and the resulting endocrinopathies on bone health is largely unknown. We performed a comprehensive evaluation of skeletal parameters in a large cohort of adult patients with APECED.Methods:...

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ba0007p44 | (1) | ICCBH2019

Bone mass and vertebral fractures in South African (SA) children on prolonged oral glucocorticoids (GCs) for chronic non-malignant illnesses

Thandrayen Kebashni , Petersen Karen , Kala Udai , Lala Nilesh , Ambaram Priya , Mistry Bhadrish , Hauptfleisch Marc , Hajinicolaou Christina , Okudu Grace , Verwey Charl , Moosa Fatima , Parbhoo Kiran , Pettifor John M

Objectives: To assess lumbar spine (LS) BMD Z-scores and the prevalence of vertebral fractures using DXA lateral vertebral (VFA) assessment in children and adolescents with chronic illnesses on GCs.Methods: All children between the ages of 5 and 17 years with chronic non-malignant illnesses who were on GCs (intravenous or oral) for greater than 3 months duration were evaluated. Study participants were children attending the paediatric sub-specia...

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ba0007p45 | (1) | ICCBH2019

Osteogenesis imperfecta type 15 with neurological phenotype associated with homozygous WNT1 mutation and uniparental isodisomy for chromosome 12

Crowe Belinda , Heathfield Mark , Edwards Karen , Clark Chris , Hupin Emilie , Bultitude Alex , Calder Alistair , Lees Melissa , Liesner Ri , Allgrove Jeremy , DeVile Catherine

Background: Osteogenesis imperfecta (OI) type 15 is a rare autosomal recessive form caused by WNT1 mutations. In addition to bone fragility it may be associated with neurological impairment. We report a unique case of OI type 15 in a child with uniparental isodisomy for chromosome 12 who also has von Willebrand disease type 2N, congenital ptosis, early onset scoliosis and a movement disorder.Presenting Problem: A female infant was delivered normally at 4...

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ba0007p46 | (1) | ICCBH2019

Vertebral fractures are more prevalent than long bone fractures in boys with glucocorticoid-treated Duchenne Muscular Dystrophy: Results of a prospective observational study

Jackowski Stefan A , McAdam Laura C , Ma Jinhui , McMillan Hugh J , Konji Victor N , Matzinger Mary Ann , Shenouda Nazih , Jaremko Jacob L , Koujok Khaldoun , Khan Nasrin , Khatchadourian Karine , Robinson Marie-Eve , MacLeay Lynn , Saleh David S , Siminoski Kerry , Rauch Frank , Ward Leanne M

Objectives: Osteoporosis is a frequent cause of morbidity in boys with glucocorticoid (GC)-treated Duchenne Muscular Dystrophy (DMD). We sought to determine the frequency and characteristics of the two most debilitating types of fractures, vertebral and long bone (VF and LBF), in pediatric DMD.Methods: This was a prospective, bi-centre, single-visit observational study in boys 4 to 17 years of age with genetically-confirmed DMD. The bone health assessmen...

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ba0007p47 | (1) | ICCBH2019

Anorexia nervosa: weighing in on bone health surveillance: When should it be performed?

Ayya Mekhala , Crabtree Nicola , Shaw Nicholas

NICE guidelines (UK) recommend that bone mineral density (BMD) scans, corrected for bone size (bone mineral apparent density [BMAD]) should be performed for patients with anorexia nervosa (AN) when underweight for a year or more. The number of patients identified with low bone mineral density or vertebral fractures remains low in this population. However, referrals for dual- energy X-ray absorptiometry (DXA), vertebral fracture assessment (VFA) and peripheral quantitative comp...

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ba0007p48 | (1) | ICCBH2019

Does improved genetic screening make it more difficult to diagnose Osteogenesis Imperfecta?

Burke Eleanor , ODonnell Gillian , McCarron Laura , McDonnell Ciara

Background: Genetic advances have led to the identification of 14 genes implicated in Osteogenesis imperfecta [OI], encompassing 9698% of cases. Hallmark features of osteogenesis imperfecta include fractures from minimal trauma, bowing of the legs and growth retardation. Non-skeletal features include blue sclera, dentinogenesis imperfecta, hearing and refractory visual deficits, pulmonary dysfunction and cardiac valvular malformations. Classical radiographic features are...

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ba0007p49 | (1) | ICCBH2019

Bone mineral density and vitamin D status in children with chronic neurological syndromes - clinical observations

Jakubowska-Pietkiewicz Elzbieta , Porczynski Maciej , Rychlowska Ewa , Albinska Paulina , Wozniak Elzbieta , Toporowska-Kowalska Ewa

Background: Some of the risk factors for osteoporosis population include: chronic immobilisation, insufficient dietary supply of calcium and vitamin D, decreased physical activity and long-term pharmacological treatment (glucocorticoids, anticonvulsant drugs). In disabled children and adolescents, the negative impact of these factors may cumulate to considerably impair the quality of life.Objectives: The aim of our study was to assess the vitamin D statu...

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ba0007p50 | (1) | ICCBH2019

Treatment with asfotase alfa for patients with infantile hypophosphatasia and screening plan of hypophosphatasia by low ALP level and dental findings in Korea

Cho Sungyoon , Jin Dong-Kyu

Background: Hypophosphatasia (HPP) is a rare skeletal disease characterized by defective bone and teeth mineralization and the deficiency of tissue non-specific alkaline phosphatase activity. This disorder is caused by mutations in the ALPL gene, which encodes TNAP. The clinical presentation of HPP varies greatly, ranging from stillbirth without bone mineralization (perinatal form) to findings in later life, such as delayed walking, short stature, skeletal deformities, bone pa...

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ba0007p51 | (1) | ICCBH2019

Higher dose of burosumab is needed for treatment of children with severe forms of X-linked hypophosphatemia

Zhukouskaya Volha V , Audrain Christelle , Lambert Anne-Sophie , Colao Annamaria , Kamenicky Peter , Adamsbaum Catherine , Nevoux Jerome , Chaussain Catherine , Wicart Philippe , Briot Karine , Di Rocco Federico , Trabado Severine , Prie Dominique , Rothenbuhler Anya , Linglart Agnes

Background and aim: Burosumab is a monoclonal antibody against anti-FGF23, which has been recently approved for treatment of X-linked hypophosphatemia (XLH). Beyond clinical trials, little is known about its efficacy/safety in clinical practice which is the aim of study.Patients/Methods: 39 children with XLH were switched from conventional therapy to burosumab (starting dose 0.4 mg/kg), because of following indications: non-responder to conventional ther...

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ba0007p52 | (1) | ICCBH2019

Variable familial expression of spondylometaphyseal dysplasia with coxa vara and a novel FN1 mutation

Steichen-Gersdorf Elisabeth , Biedermann Rainer , Wansch Juergen , Witsch-Baumgartner Martina

Background: Spondylometaphyseal dysplasias (SMDs) comprise a diverse group of skeletal dysplasias and often manifest as short stature, growth-plate irregularities, and vertebral anomalies. One such condition is SMD with corner fractures (OMIM #184255). These individuals generally show development of coxa vara, scoliosis and triangular ossification centers at the edges of metaphyses that simulate fractures.Presenting problem: To date only 16 p...

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ba0007p53 | (1) | ICCBH2019

Successful treatment with enzyme replacement therapy in a girl with severe infantile Hypophosphatasia

Heldt Katrin , L'Allemand Dagmar

Background: Infantile Hypophosphatasia (HPP) is an inborn error of metabolism characterized by low serum alkaline phosphatase activity caused by loss-of-function mutations within the ALPL-gene encoding the tissue nonspecific isoenzyme of ALP (TNSALP). TNSALP controls skeletal and dental mineralization by hydrolyzing inorganic pyrophosphate, a potent inhibitor of bone mineralization. Patients develop substantial skeletal disease, failure to thrive, and sometimes vitamin B6&#150...

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ba0007p54 | (1) | ICCBH2019

Is oral health correlated with skeletal phenotype in primary metabolic bone diseases? A preliminary report of the Greek experience

Doulgeraki Artemis , Gatzogianni Margarita , Agouropoulos Andreas , Athanasopoulou Helen , Polyzois Georgios , Kavvadia Aikaterini

Introduction: Oral health problems are common in patients with primary metabolic bone diseases. We aimed to investigate the oral health of patients with primary osteoporosis and genetic mineralization disorders and correlate the oral health findings with clinical, imaging and laboratory parameters.Patients and methods: Twenty nine patients 2.8y-17y (15 males, 22 prepubertal) with primary metabolic bone diseases underwent a comprehensive dental examinatio...

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ba0007p55 | (1) | ICCBH2019

Abstract withdrawn....

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ba0007p56 | (1) | ICCBH2019

Unusual cause of abdominal pain in adolescent girl

Kolsky Alexander , Libansky Petr , Jiskrova Hana , Bayer Milan

Background: Recurrent abdominal pain is common in children and adolescents. This symptom could be raised by the complex of both functional and organic etiologies.Presenting problem: We put forward a seventeen-years-old adolescent girl with personal history of repeated abdominal pain and urinary tract infections. Her family history was negative.Clinical management: Our patient was admitted to hospital due to recurrent abdominal pain...

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ba0007p57 | (1) | ICCBH2019

Effective therapy with growth hormone of an adolescent patient with growth hormone deficiency and osteopetrosis: A case report

Vlachopapadopoulou Elpis Athina , Dikaiakou Eirini , Samelis Panagiotis , Michalacos Stefanos

Background: Osteopetrosis (OP) is a bone disease which is characterized by increased bone density. Autosomal dominant osteopetrosis type II (ADO II, also called Albers-Schönberg disease) is the most common type and it is caused by heterozygous mutations in the chloride channel 7 (CLCN7) gene.Presenting problem: To present a patient with known medical and family history of osteopetrosis, who was diagnosed with Growth Hormone (GH) deficiency and was t...

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ba0007p58 | (1) | ICCBH2019

The validity of serum alkaline phosphatase to identify nutritional rickets in Nigerian children on a calcium-deprived diet

Thacher Tom , Sempos Christopher , Durazo-Arvizu Ramon , Munns Craig , Fischer Philip , Pettifor John

Objectives: Nutritional rickets results from the interaction of poor vitamin D status and limited calcium intake. Elevated serum alkaline phosphatase is a marker of impaired mineralization in many forms of rickets. We assessed the reliability of serum alkaline phosphatase in identifying nutritional rickets in calcium-deprived Nigerian children.Methods: We reanalyzed data from a case-control study of Nigerian children with active rickets (cases) and age-,...

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ba0007p59 | (1) | ICCBH2019

Effective treatment of a patient with Hypophosphatemic Rickets leading to normal adult height

Vlachopapadopoulou Elpis-Athina , Athanasouli Fani , Dikaiakou Eirini , Samelis Panagiotis , Michalacos Stefanos

Background: Hypophosphatemic Rickets is an inherited disorder characterized by defect in bone mineralization, mainly in long bones due to hypophosphatemia. The most common form is the X-linked form but other forms such as autosomal dominant hypophosphatemic rickets and tumor-induces osteomalacia are also described. Symptoms usually begin in infancy or early childhood and there is a large spectrum of abnormalities. The most severe form causes bowing of legs, bone deformities, b...

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ba0007p60 | (1) | ICCBH2019

FGF23-expressing osteocytes are confined to bone packets that completed primary mineralization in patients with chronic kidney disease on dialysis (CKD5D)

Fratzl-Zelman Nadja , Pereira Renata C , Roschger Paul , Salusky Isidro B , Klaushofer Klaus , Wesseling-Perry Katherine

Objectives: FGF23 is expressed in clusters of osteocytes at the trabecular periphery suggesting that FGF23-expressing osteocytes are confined to specific basic multicellular units (BMUs) at the trabecular surface. Higher numbers of FGF23-expressing osteocytes are found in chronic kidney disease (CKD) patients with preserved skeletal mineralization indices. We thus combined immunohistochemistry and quantitative backscattered electron imaging (qBEI) to explore the hypothesis tha...

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ba0007p61 | (1) | ICCBH2019

Biochemical and genetic analysis in patients with odontohypophosphatasia in Japan

Kubota Takuo , Ohata Yasuhisa , Ishihara Yasuki , Fujiwara Makoto , Takeyari Shinji , Yamamoto Kenichi , Nakano Yukako , Miyata Kei , Nakayama Hirofumi , Kitaoka Taichi , Okawa Rena , Nakano Kazuhiko , Akiyama Tomoyuki , Ozono Keiichi

Background: Hypophosphatasia (HPP) is characterized by defective mineralization of bone and/or teeth in the presence of low serum alkaline phosphatase (ALP) activity and caused by mutations in the ALPL gene encoding tissue-nonspecific ALP. Odontohypophosphatasia (odonto HPP) is the mildest form of hypophosphatasia and characterized by dental complications without abnormalities of the skeleton system.Objectives: We aimed to investigate biochemical and gen...

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ba0007p62 | (1) | ICCBH2019

Tissue non-specific alkaline phosphatase activity and mineralization capacity of bi-allelic mutations from severe perinatal and asymptomatic hypophosphatasia phenotypes: Results from an in-vitro mutagenesis model

Uday Suma , Matsumara Tomohiro , Saraff Vrinda , Saito Shiho , Orimo Hideo , Hogler Wolfgang

Introduction: Hypophosphatasia (HPP) characterized by reduced mineralization occurs from mutations in the tissue non-specific alkaline phosphatase (ALPL) gene. Individuals harbouring bi-allelic mutations are generally reported to be severely affected. We report the findings of in vitro functional studies following site-directed mutagenesis in bi-allelic mutations causing extreme clinical phenotypes; severe perinatal and asymptomatic HPP.Objectiv...

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ba0007p63 | (1) | ICCBH2019

Bone geometry and microarchitecture deficits in children with Alagille syndrome

Kindler Joseph , Mitchell Ellen , Piccoli David , Grimberg Adda , Leonard Mary , Loomes Kathleen , Zemel Babette

Objectives: Alagille syndrome (ALGS) is an autosomal dominant disorder attributed to mutations in the Notch signaling pathway. Children with ALGS are at increased risk for fragility fracture, but the etiology of this disposition is unknown. Our objective was to characterize bone mass, geometry, and microarchitecture in children with ALGS.Methods: This was a cross-sectional study of 10 children (9 females) ages 8-18 years, with a clinical diagnosis of ALG...

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ba0007p64 | (1) | ICCBH2019

Missense mutations in ENPP1 result in osteoporosis in patients and is recapitulated in the ENPP1 loss of function murine model

Braddock Demetrios , Oheim Ralf , Zimmerman Kristin , Kavanagh Dillon , Horowitz Mark , Carpenter Thomas

Biallelic ENPP1 deficiency in humans induces hypophosphatemic rickets in children characterized by increased circulating FGF23 levels and renal phosphate wasting (Autosomal Recessive Hypophosphatemic Rickets Type 2, or ARHR2), but osteopenia or osteoporosis has not been described in adults. Here, we describe three adult male patients (ages 43, 59, and 62) suffering from early-onset osteoporosis who presented to the Institute of Osteology and Biomechanics at the Uni...

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ba0007p65 | (1) | ICCBH2019

Tumor induced osteomalacia in a 12-year-old girl: Case report

Phatarakijnirund Voraluck , Veerapan Puwadon , Chotipanich Chanisa , Numbenjapon Nawaporn , Kongkarnka Chawkaew

Background: Tumor Induced osteomalacia (TIO) is a rare acquired disorder in children characterized by hypophosphatemia, phosphaturia and rickets/osteomalacia. This condition is causes by mesenchymal tumor that produce phosphaturic factors resulting in decrease renal phosphate reabsorption. Here, we report a case of FGF-23 induced hypophosphatemic rickets due to a tumor of femoral bone in an adolescent girl.Clinical case: The proposita is now 18 years old...

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ba0007p66 | (1) | ICCBH2019

Bone densitometry and body composition in children with hypophosphatasia

Mciver William , Whittaker Lucy , Crabtree Nicola , Hogler Wolfgang , Saraff Vrinda

Hypophosphatasia (HPP) is a rare genetic disease characterised by low tissue-nonspecific alkaline phosphatase activity, causing defective mineralisation of bone and teeth. There is limited data on the measurement of bone mineral density (BMD) and body composition in these children.Objectives: To assess whether BMD and lean body mass (LBM) in treatment naïve children with HPP correlate with functional outcomes using the 6-minute walk test (6MWT)....

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ba0007p67 | (1) | ICCBH2019

Bone health outcomes in children and adolescents with neuromuscular disease

Biggin Andrew , Chua Verene , Wall Christie , Pacey Verity , Gray Kelly , McGee Richard , Poon Myra , Munns Craig

Objectives: To compare and contrast the natural history of osteoporosis and response to zoledronate in children and adolescents with Duchene muscular dystrophy (DMD), spinal muscular atrophy (SMA) or other congenital muscular dystrophies (CMD).Methods: A retrospective medical record review of fracture history, treatment and bone mineral densitometry of children managed at a tertiary centre in Sydney over the last 6 years.Results: A...

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ba0007p68 | (1) | ICCBH2019

Clinical case of a child with a hereditary vitamin D dependent rickets type 1a, complicated by rachitic lung and oxygen dependence

Polyakova Nina , Kakaulina Victoria , Zarubina Vera , Nagornova Tatiana , Petraykina Elena , Pechatnikova Natalia

Background: Hereditary pseudovitamin D-deficiency rickets, also known as vitamin D-dependent rickets type I, with an autosomal recessive inheritance, is caused by mutations in CYP27B1. It is characterized clinically by hypotonia, weakness, growth failure, and hypocalcemic seizures in early infancy. The patients also have hypocalcemia, radiologic findings typical of rickets, elevated serum parathyroid hormone concentrations, and generalized aminoaciduria. We present follow-up o...

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ba0007p69 | (1) | ICCBH2019

Experience of implementation and monitoring of burosumab treatment in a multi-disciplinary setting

Marr Caroline , Greenacre Gemma , Arundel Paul

Objective: In 2018 we started treating children with X-linked hypophosphataemic rickets (XLH) with burosumab, initially as part of an industry-sponsored early access program. We present what we did, the barriers to implementation and broader lessons for the introduction of treatments for rare bone diseases in the future.Method: Firstly, we identified suitable patients under the age of 18 years with XLH. For convenience we arranged dedicated clinics in wh...

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ba0007p70 | (1) | ICCBH2019

Metabolic bone disease of prematurity – comparing neonatal and endocrine approaches using a nationwide survey

Chinoy Amish , Mughal Zulf , Padidela Raja

Objectives: Metabolic bone disease of prematurity (MBDP) is a multi-factorial condition characterised by a deficiency of calcium (Ca) and phosphate (PO4) mineral for incorporation into the organic bone matrix. Given the lack of clear guidelines, we conducted a survey across the United Kingdom of current practices, inviting both neonatologists and paediatric metabolic bone disease specialists (PMBS).Methods: A web-based questionnaire survey was disseminat...

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ba0007p71 | (1) | ICCBH2019

Necessity of high dose and prolonged duration denosumab post stem cell transplant for TNFRSF11A osteoclast-poor autosomal recessive osteopetrosis

Taylor-Miller Tashunka , Doss Hemalatha , Weerdenburg Heather , Whiting Sam , Sivaprakasam Ponni , Gassass Adam , Smithson Sarah F , Steward Colin G , Burren Christine P

Background: Hypercalcaemia is a risk following stem cell transplant (SCT) for all types of autosomal recessive osteopetrosis (ARO) due to restored osteoclast differentiation. This can be particularly severe in the osteoclast-poor (OP) form involving the tumour necrosis factor receptor superfamily 11A (TNFRSF11A) gene, encoding RANK. Denosumab, a monoclonal antibody blocking RANK activation, has been described for refractory post-SCT hypercalcaemia in two cases. Our case adds n...

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ba0007p72 | (1) | ICCBH2019

Burosumab experience in UK X-linked hypophosphataemia children under five years old

Dharmaraj Poonam , Burren Christine , Cheung Moira S , Padidela Raja , Mughal Zulf , Shaw Nick , Saraff Vrinda , Nadar Ruchi , Randell Tabitha , Mushtaq Talat , Ramakrishnan Renuka , Sennipathan Senthil , Sakka Sophia , Bath Louise , Elleri Daniela , Davies Justin H , Barton John , Tucker Ian , Rayner Lauren , Arundel Paul , Gilbey-Cross Robyn , Tothill Alexander M , Philip James , Sawoky Nadine , Connor Paul , Mathieson Leigh

Objectives: X-linked hypophosphataemia (XLH) is a rare inherited form of osteomalacia characterised by low blood phosphate levels which lead to inadequate mineralisation of bone and rickets. Burosumab is an anti-FGF23 fully human monoclonal-antibody, and the first treatment to target the underlying pathophysiology of XLH. Real-world evidence is important in validating the findings of clinical studies. We report relevant real-world biochemical data on children under five years ...

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ba0007p73 | (1) | ICCBH2019

Burosumab initiation in a UK X-linked hypophosphataemia cohort: real-world use resonates with research evidence

Dharmaraj Poonam , Burren Christine , Cheung Moira S , Padidela Raja , Mughal Zulf , Shaw Nick , Saraff Vrinda , Nadar Ruchi , Randell Tabitha , Mushtaq Talat , Ramakrishnan Renuka , Sennipathan Senthil , Sakka Sophia , Bath Louise , Elleri Daniela , Davies Justin H , Barton John , Tucker Ian , Rayner Lauren , Arundel Paul , Gilbey-Cross Robyn , Tothill Alexander M , Philip James , Sawoky Nadine , Connor Paul , Mathieson Leigh

Objectives: X-linked hypophosphataemia (XLH) is a rare inherited form of osteomalacia characterised by low blood phosphate levels which lead to inadequate mineralisation of bone resulting in rickets, skeletal abnormalities, physical impairment, weakness, and pain. Burosumab is an anti-FGF23 fully human monoclonal-antibody, and the first treatment to target the underlying pathophysiology of XLH. Real-world evidence is important in validating the findings of clinical studies. We...

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ba0007p74 | (1) | ICCBH2019

Burosumab can improve pain and quality of life for children with X-linked hypophosphataemia and their families: a London centre's experience

Gilbey-Cross Robyn , Sandy Jessica L , Morris Mavali , Cocca Alessandra , Sakka Sophia D , Massey Jill , Cheung Moira S

Objectives: Burosumab, a monoclonal antibody that therapeutically targets the underlying elevated levels of fibroblast growth factor 23 (FGF23) in X-linked hypophosphatemia (XLH), is now available to children out of trial conditions. Our objective was to describe the effect of burosumab on quality of life, functionality and pain in a clinical setting.Methods: Questionnaire tools were completed at baseline, 6 and 9 months for 9 children with XLH starting ...

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ba0007p75 | (1) | ICCBH2019

Active vitamin D analogues and oral phosphate for the treatment of X-linked hypophosphataemia in paediatric patients: A systematic literature review and survey of expert opinion on current needs

Ariceta Gema , Collantes Carmen de Lucas , Jandhyala Ravi , Mughal Zulf

Objectives: X-linked hypophosphataemia (XLH) is a rare, inherited, genetic disease characterised by renal phosphate wasting, bone mineralisation defects, rickets, abnormal tooth development, poor growth and, often, bone pain. Common treatment of children involves supplementation with oral phosphate and active vitamin D (often termed conventional therapy). The objective of this study was to identify and understand the perceived limitations of conventional therapy fo...

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ba0007p76 | (1) | ICCBH2019

Safety profile of asfotase alfa treatment of patients with hypophosphatasia: a pooled analysis

Whyte Michael P , Bishop Nick , Hasan Jawad , Hofmann Christine , Hogler Wolfgang , Rockman-Greenberg Cheryl , Sena Veruska , Zhou Shanggen , Kishnani Priya S

Objectives: Asfotase alfa (AA), an enzyme replacement therapy, is the only approved treatment for pediatric-onset hypophosphatasia (HPP). We evaluated the safety profile of AA from the clinical trial program spanning pediatric and adult patients.Methods: Safety data were pooled from 4 open-label, multicenter studies in children aged ≤3 years (study 002/003 [NCT00744042/NCT01205152]; n=11) and ≤5 years (study 010-10 [NCT01176266]; <em...

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ba0007p77 | (1) | ICCBH2019

Long-term efficacy profile of asfotase alfa in the treatment of patients with hypophosphatasia: a pooled analysis

Hogler Wolfgang , Rockman-Greenberg Cheryl , Petryk Anna , Zhou Shanggen , Whyte Michael P , Bishop Nick

Objectives: Asfotase alfa (AA), an enzyme replacement therapy, is the only approved medical treatment for pediatric-onset hypophosphatasia (HPP), which is caused by deficient tissue-nonspecific alkaline phosphatase activity. We detail the long-term efficacy of AA observed from the pediatric clinical trial program.Methods: Efficacy data collected to study completion were pooled from 3 open-label, multicenter investigations of children who manifested HPP s...

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ba0007p78 | (1) | ICCBH2019

Abstract withdrawn....

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ba0007p79 | (1) | ICCBH2019

Novel imaging approaches to the quantification of musculoskeletal alterations in X-linked hypophosphatemic rickets (XLH)

Raimann Adalbert , Mehany Sarah N , Feil Patricia , Weber Michael , Boni-Mikats Andrea , Klepochova Radka , Krssak Martin , Pietschmann Peter , Haeusler Gabriele , Schneider Johannes , Raum Kay , Patsch Janina

Objectives: X-linked hypophosphatemia (XLH) is a rare genetic disorder of phosphate metabolism caused by mutations in the PHEX gene. This pilot study aims to apply novel imaging techniques to asses the musculoskeletal phenotype of XLH patients by bidirectional axial transmission (BDAT) ultrasound, magnetic resonance spectroscopy (MRS) and high resolution peripheral quantitative computed tomography (HR-pQCT).Methods: BDAT bone ultrasound of the radius and...

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ba0007p80 | (1) | ICCBH2019

Characterization of pain in patients with fibrous dysplasia

Spencer Tiahna , Javaid Kassim , Boyce Alison

Pain is common in patients with fibrous dysplasia (FD), however the mechanisms and presentation of pain is poorly understood. Retrospective studies have shown that pain in FD presents along a broad spectrum, responds variably to treatment, and does not correlate with FD disease burden. Pain may be generally conceptualized into two categories: nociceptive pain (associated with actual or potentially tissue damaging stimuli) and neuropathic pain (caused by dysfunction of the soma...

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ba0007p81 | (1) | ICCBH2019

Bone health in adolescent females with anorexia nervosa may be preserved by high lean mass

Nour Munier , Baril Chantelle , Kontulainen Saija , Kurji Ayisha , Baxter-Jones Adam , Erlandson Marta

Objectives: Anorexia nervosa (AN) is condition of severe low body weight as a result of impaired body image and a fear of gaining weight, often occurring during adolescence, a critical time for bone development. AN has been associated with low bone mass and impaired bone strength. However, many studies have failed to consider body composition, particularly lean mass when assessing bone health. The purpose of this study was to assess if females with AN have an appropriate amoun...

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ba0007p82 | (1) | ICCBH2019

Tertiary hyperparathyroidism and post-operative hungry bone syndrome in a patient with X-linked hypophosphatemic rickets

Nour Munier , Inman Mark

Background: Traditional treatment of X-linked Hypophosphatemic Rickets, while beneficial in minimizing disease associated deformity, is limited by development of treatment related complications, including nephrocalcinosis and hyperparathyroidism.Presenting problem: A 10-year-old female with XLH rickets was seen for transfer of ongoing care. She had been treated since birth with Calcitriol and phosphate supplement at typical replacement dosing (18 ng/kg/d...

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ba0007p83 | (1) | ICCBH2019

Could digital X-ray radiogrammetry be an alternative for dual energy X-ray absorptiometry

Leijten Alex , Hampsink Brieke , Janssen Marcel , Klein Willemijn , Draaisma Jos

Objectives: Bone mineral density (BMD) in children is generally measured with dual energy X-ray absorptiometry (DXA). Digital X-ray Radiogrammetry (DXR) is a promising alternative technique, that uses BoneXpert software to measure cortical BMD on hand radiographs, expressed as bone health index (BHI). DXR is a cheap method, is easy to apply in every hospital and involves less ionizing radiation compared to DXA. We aim to compare DXR and DXA measurements for determining bone de...

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ba0007p84 | (1) | ICCBH2019

Abstract withdrawn....

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ba0007p85 | (1) | ICCBH2019

Neonatal calcinosis cutis due to a mutation in the GNAS gene

Levy-Shraga Yael , Barel Ortal , Javasky Elisheva , Barzilai Aviv , Greenberger Shoshana

Background: Calcinosis cutis, the deposition of insoluble calcium salts in the cutaneous and subcutaneous tissue, is rare during infancy. Calcifications are most frequently reported after subcutaneous fat necrosis, hypothermia in neonates or following extravasation of calcium gluconate.Presenting problem: The patient was born at term by caesarean section because of fetal distress; the birth weight was 2426 g. At age 4 weeks, he was admitted to the hospit...

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ba0007p86 | (1) | ICCBH2019

Disease-specific pathological traits of youth at risk of secondary osteoporosis as determined through peripheral Quantitative Computed Tomography

Chivers Paola , Jenkins Mark , Hart Nicolas , Rantalainen Timo , McIntyre Fleur , Hands Beth , Nimphius Sophia , Rothacker Karen , Beck Belinda , Weeks Benjamin , Beeson Brendan , Siafarikas Aris

Objectives: This cross-sectional observational study examined peripheral long bone material and structural differences in youth at risk of secondary osteoporosis across disease-specific profiles using peripheral Quantitative Computed Tomography (pQCT).Methods: Scans of the upper (radius; ulna) and lower (tibia; fibula) limbs of children at 4% distal and 66% mid-shaft sites were undertaken using pQCT. Specific groups were those with (1) increased risk of ...

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ba0007p87 | (1) | ICCBH2019

Assessment of bone density by DXA in poorly controlled children with β-Thalassemia: Correction for hepatic iron - overloadby manual analysis

Palande Sonal , Ekbote Veena , Padidela Raja , Mughal Zulf , Khadilkar Anuradha , Khadilkar Vaman , Crabtree Nicola

Objectives: Beta thalassemia major (BTM) is characterized by anemia and iron overload, especially in children with inadequate chelation therapy. Dual energy x-ray absorptiometry software (DXA) may misanalyse bone measurements due to iron overload/deposition in organs such as the liver. Our objective was to study difference between the anterio-posterior spine measurements of bone mineral content (BMC), area (BA) and density (BMD) in non-chelated beta thalassaemia children with ...

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ba0007p88 | (1) | ICCBH2019

Diagnostic performance of morphometric vertebral fracture analysis (MXA) in children using a 33-point software programme

Alqahtani Fawaz , Crabtree Nicola , Bromiley Paul , Cootes Timothy , Broadley Penny , Lang Isla , Offiah Amaka C

Background: There is significant inter and intraobserver variability in diagnosing vertebral fractures in children. We aimed to evaluate the diagnostic accuracy of morphometric vertebral fracture analysis (MXA) using a 33-point software programme designed for adults, on dual-energy x-ray absorptiometry (DXA) images of children.Methods: Lateral spine DXA images of 420 children aged between 5 and 18 years were retrospectively reviewed. Vertebral fracture a...

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ba0007p89 | (1) | ICCBH2019

Use of DXA and pQCT measurements to screen for fracture risk in 3 to 18 year old poorly chelated thalassaemic children

Palande Sonal , Ekbote Veena , Chilplonkar Shashi , Chauthmal Sujata , Khadilkar Vaman , Ramanan Vijay , Khadilkar Anuradha , Padidela Raja , Mughal Zulf , Crabtree Nicola

Objectives: Low bone mineral density has been reported in children with beta thalassemia major, they also have increased propensity to fracture. We have studied DXA and pQCT variables in poorly chelated 3 to 18 year old thalassaemic patients and their relationship with fractures in this population.Methods: We studied 167, 3 to 18 year old children (Girls 72) with beta thalassemia major. Bone measurements were performed by GE iDXA (Lumbar Spine, Total bod...

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ba0007p90 | (1) | ICCBH2019

Osteogenesis imperfecta due to FKBP10 mutation- shift from high to low bone turnover

Lenherr-Taube Nina , Harrington Jennifer , Murphy Anne , Filipowski Kornelia , Kin On Wong Andy , Horward Andrew , Sochett Etienne

Background: Osteogenesis imperfecta (OI) due to FKBP10 mutation is a rare variant of OI. FKBP10 encodes for FKBP65, a molecular chaperon that interacts with type I procollagen to prevent premature fibril formation and plays a role in collagen crosslinking. Defects in FKBP65 result in a spectrum of moderate to severe OI with remarkable variability in phenotypes.Presenting problem: The patient is the first child of non-consanguineous Caucasian parents. She...

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ba0007p91 | (1) | ICCBH2019

Bone health index by hand X-ray compared with bone mineral density by dual-energy X-ray absorptiometry in children with Duchenne muscular dystrophy

Bowden Jonathan J , Krishnamurthy Ramkumar , Hu Houchun , Adler Brent , Krishnamurthy Rajesh , Bowden Sasigarn A

Objectives: Children with Duchenne muscular dystrophy (DMD) receiving long-term glucocorticoid (GC) therapy are at risk for osteoporosis and fragility fractures. Recent studies showed that cortical thickness and areas were associated with increased fracture risk. Digital X-ray measurement of the cortical thickness of the metacarpal bones has a potential role as a marker for bone health in children, but has not been evaluated in DMD. The aim of this study was to compare bone ag...

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ba0007p92 | (1) | ICCBH2019

A little girl with bowing of legs, a short mother and a waddling sister: Metaphyseal Chondrodysplasia, Schmid type

Nimali Seneviratne Sumudu , Wanniarachchige Harshika , Thilakarathna Kanishka , Samarasinghe Nayana

Background: Metaphyseal Chondrodysplasia, Schmid Type(MDS) is a rare autosomal dominant disorder characterized by short stature, coxa vara and bow legs, with radiographs showing diffuse metaphyseal flaring and irregularity of tubular bones. We report a family with MDS from Sri Lanka, where diagnosis was made on family history and typical radiographic features.Presenting problem: A 5-year-old girl presented with asymmetrical bowing of lower limbs since 2&...

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ba0007p93 | (1) | ICCBH2019

Assessing the ability of vibration analysis to differentiate wrist and ankle fractures from sprains in children

Fennimore David , Ali Ridita , Alboul Lyuba , Offiah Amaka

Rationale and Hypothesis: Standard practice for differentiating fractures from sprains requires conventional radiographs. Up to 21% of wrist and ankle radiographs in children are negative at a local cost of over £100,000 per annum, approximately £12 million per annum across England and Wales. Our recent pilot study in adults confirmed that vibration analysis in injured patients causes no discomfort.Objectives: To assess the ability of vibration...

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ba0007p94 | (1) | ICCBH2019

Characteristics of ultradistal radius bone density during childhood: results from the Bone Mineral Density in Childhood Study

Kindler Joseph , Mitchell Jonathan , McCormack Shana , Cousminer Diana , Chesi Alessandra , Kelly Andrea , Lappe Joan , Gilsanz Vicente , Oberfield Sharon , Shepherd John , Winer Karen , Kalkwarf Heidi , Grant Struan , Zemel Babette

Objective: The forearm is a common fracture site during childhood, but DXA pediatric reference data for areal bone mineral density (aBMD) at the ultradistal (UD) radius are lacking. The objective of this study was to first, develop age-, sex-, and ancestry-specific reference data for UD radius aBMD; second, assess the relationship between UD radius aBMD and a) other DXA aBMD measures and b) radius bone volumetric density and geometry by pQCT; and third, examine the tracking of...

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ba0007p95 | (1) | ICCBH2019

Detection of intact FGF23 using a novel well-characterized ELISA

Wallwitz Jacqueline , Gadermaier Elisabeth , Bitzer Annegret , Himmler Gottfried

Objectives: Fibroblast growth factor 23 (FGF23) is a bone-derived phosphaturic hormone. The main target organ is the kidney, where FGF23 suppresses renal phosphate reabsorption and vitamin D synthesis. It also stimulates calcium reabsorption in the kidney. FGF23 secretion is stimulated by 1,25(OH)2D and by increased extracellular phosphate concentration, thus forming a feedback loop between kidney and bone. The bioactive intact FGF23 contains 251 amino acids and is glycosylate...

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ba0007p96 | (1) | ICCBH2019

Radiofrequency echographic multispectrometry (REMS): a new approach for osteoporosis diagnosis in adolescents

Caffarelli Carla , Pitinca Maria Dea Tomai , Nuti Ranuccio , Gonnelli Stefano

Objective: Dual-energy X-ray absorptiometry (DXA) is the most commonly used method for evaluating bone mineral density (BMD) in children and adolescents. An innovative echographic approach for osteoporosis diagnosis, directly applicable on both femoral neck and lumbar spine, has been recently introduced and clinically validated through single-center and multicenter studies in a adult population. This developed approach has been subsequently defined as Radiofrequency Echographi...

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ba0007p97 | (1) | ICCBH2019

Association of serum alkaline phosphatase with radiological rickets severity in children with X-linked hypophosphataemia on conventional therapy

Uday Suma , Shaw NJ , Mughal ZM , Randell Tabitha , Hogler Wolfgang , Santos Rui , Padidela Raja

Introduction: Conventional treatment of X-linked hypophosphataemic rickets (XLH) involves administration of oral phosphate and vitamin D analogues. An important treatment goal is to heal rickets which is assessed by normalisation of serum alkaline phosphatase (ALP) levels and resolution of radiological signs of rickets.Objectives: To determine the usefulness of serum ALP in assessing disease severity on wrist and knee radiographs as determined by rickets...

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ba0007p98 | (1) | ICCBH2019

The effect of vitamin D on bone health assessed by radiogrammetry: a double-blind placebo-controlled vitamin D supplementation trial in infants

Uday Suma , Crowe Francesca , Bowie Jessica , Mughal Zulf , Manaseki-Holland Semira , Hogler Wolfgang

Introduction: The effect of vitamin D± calcium supplementation in children has traditionally been assessed using growth parameters, biochemical markers and radiographs.Objectives: To evaluate the utility of Bone Health Index (BHI), obtained using automated hand radiogrammetry, in assessing treatment effect in children participating in a vitamin D supplementation trial.Methods: In this double-blind placebo-controlled trial, Afg...

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ba0007p99 | (1) | ICCBH2019

Pre and post-natal achondroplasia, retrospective series of 64 consecutives cases with analyze of the diagnostic methods and timing issues

Baujat Genevieve , Borghese Roxana , Sonigo Pascale , Bacrot Severine , Bengoa Joana , Michot Caroline , Millischer Anne-Elodie , Rondeau Sophie , Childs Beatrice , Attie-Bittach Tania , Bessieres Bettina , Salomon Laurent , Ville Yves , Bonnefont Jean-Paul , Steffann Julie , Cormier-Daire Valerie

The last years, diagnosis of achondroplasia benefited of the recent advances in prenatal imaging (including 3T-CD scan), and in invasive and non-invasive molecular screening.Objectives: To analyse stage/age, diagnosis procedures and outcome on a series of 64 consecutive cases of achondroplasia, in the French Centre of Reference for skeletal dysplasia, between 2008 and 2016.Methods: Confirmed achondroplasia were included in this sin...

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ba0007p100 | (1) | ICCBH2019

High-resolution MRI assessment of the muscle-fat-bone unit in young adults with childhood onset Crohn's disease

Steell Lewis , Johnston Blair , Ahmed S Faisal , Gaya Daniel R , MacDonald Jonathan , Seenan John Paul , Russell Richard K , Gray Stuart , Wong Jarod

Objective: Childhood onset Crohns disease (CO-CD) is associated with musculoskeletal deficits. However, there are limited data regarding muscle-bone outcomes in adults with CO-CD. The current study aimed to comprehensively assess the muscle-fat-bone unit in young adults with CO-CD, using novel methods of MRI, in comparison with healthy controls.Methods: Trabecular microarchitecture and cortical geometry of the distal femur were assessed using 3T mi...

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ba0007p101 | (1) | ICCBH2019

Vitamin D levels among Lebnaese children: Do we need to alter normal level?

El Ali Margo , Yaghi Yasser

Introduction: Vitamin D is essential for calcium metabolism as well as for fracture prevention. In children, low levels can cause rickets. A high prevalence of inadequacy in children has been reported in many studies. It is entirely prevalent in Lebanese children. There are different ways to detect cut-off points for vitamin D deficiency, The aim of this study was to describe the distribution of serum 25(OH)D levels in Lebanese children, males and females, to evaluate and prop...

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ba0007p102 | (1) | ICCBH2019

Vitamin D deficiency in children in Israel: A cross-sectional study and possible associated factors

Korchia Gerard , Korchia Martine

Objectives: This cross-sectional study was done in order to assess the prevalence and determinants of vitamin D deficiency in children taking in account the following parameters: childrens age, season, geographic region and ethnicity.Methods: A cross-sectional prospective study was conducted in Israeli children aged 018 from Meuhedet Health Services during the year of 2016 in primary care pediatric clinics throughout all different geographic ...

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ba0007p103 | (1) | ICCBH2019

Abstract withdrawn....

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ba0007p104 | (1) | ICCBH2019

Vitamin D deficiency nutritional rickets presenting to secondary care in children (<16 Years) – A United Kingdom surveillance study

Shaw Nick , Mughal Zulf , Julies Priscilla , Pall Karina , Lynn Richard , Leoni Marina , Calder Alistair , McDonnell Ciara , McDevitt Helen , Blair Mitch

Objectives: Nutritional Rickets (NR) is the commonest cause of rickets worldwide. Although the prevalence of rickets has been widely reported to be increasing, the actual national incidence of NR in the United Kingdom (UK) is unknown.Methods: Retrospective data were collected monthly between March 2015 and March 2017 from 3500 consultant paediatricians using British Paediatric Surveillance Unit (BPSU) reporting methodology. Clinicians completed an online...

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ba0007p105 | (1) | ICCBH2019

Respiratory health impacts quality of life for adults with OI

Yonko Elizabeth , Carter Erin , Sandhaus Robert , Raggio Cathleen

Objectives: Respiratory insufficiency is the leading cause of mortality for individuals diagnosed with Osteogenesis Imperfecta (OI), a skeletal dysplasia clinically characterized by fractures, bone fragility, and scoliosis. The objective of this study is to explore respiratory function and its relation to quality of life, type of OI, presence of scoliosis, stature, and other factors such as age or co-existing co-morbidities.Methods: Adults with OI comple...

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ba0007p106 | (1) | ICCBH2019

Scoliosis and cardiopulmonary outcomes in adults with osteogenesis imperfecta: a pilot study

Khan Sobiah , Yonko Elizabeth , Carter Erin , Sandhaus Robert , Raggio Cathleen

Objectives: Osteogenesis imperfecta (OI) is a group of rare genetic disorders characterized by osteoporosis, predisposition to fracture, and scoliosis. Recently, however, there has been increased focus on pulmonary insufficiency, as it is the leading cause of mortality in individuals with OI. The primary objective of this study is to determine if reduced pulmonary function in individuals with OI is intrinsic to the underlying connective tissue disorder. Another goal of this st...

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ba0007p107 | (1) | ICCBH2019

Sex differences in the longitudinal associations between body composition and bone stiffness index in European children and adolescents

Cheng Lan , Pohlabeln Hermann , Ahrens Wolfgang , Russo Paola , Veidebaum Toomas , Chadjigeorgiou Charalambos , Molnar Denes , Eiben Gabriele , De Henauw Stefaan , Moreno Luis , Page Angie , Hebestreit Antje

Objectives: The present study aims to evaluate the longitudinal association of fat mass (FM), fat free mass (FFM) with bone stiffness index (BSI) in European children and adolescents over 2 and 6 years follow-up. METHODS: We included children of the IDEFICS/I. Family cohort, who participated in repeated measurements of BSI using calcaneal quantitative ultrasound (QUS), body composition using skinfold thickness, sedentary behaviours (SB) and physical activity (PA) using self-ad...

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ba0007p108 | (1) | ICCBH2019

Abstract withdrawn....

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ba0007p109 | (1) | ICCBH2019

Fracture prevalence in children 0–19 years-old in Mexico: A 10-year cross-sectional analysis

Clark Patricia , Barbato Annarella , Guagnelli Miguel Angel , Rascon Jose Alberto , Denova Edgar , Borja Victor Hugo

Fracture prevalence in children appears to change in recent years due to variations in physical activity and enforcement of laws that protect children within motor vehicles. However, in Mexico such variation has not been explored so far.Objective: To analyze fracture prevalence in the paediatric population of Mexico to detect patterns of change in time, between genres and among different diagnoses.Methods: We analyzed data from the...

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ba0007p110 | (1) | ICCBH2019

Cost-effectiveness of a Vitamin D supplementation programme in pregnant women and children to prevent rickets in the UK

Floreskul Vilius , Juma Fatima , Daniel Anjali , Zamir Imran , Mughal Zulf , Padidela Raja

Introduction: Rickets is characterised by defective mineralisation of the growth plate and osteoid, caused by deficiency of vitamin-D and/or of dietary calcium. Rickets continues to be reported in the UK, especially in children from dark-skinned ethnic groups. Literature on the cost of management of rickets and cost-effectiveness of vitamin D supplementation is lacking worldwide.Methods: The analysis considers the cost-effectiveness of an intervention in...

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ba0007p111 | (1) | ICCBH2019

Vitamin D dependent rickets type 1 caused by CYP27B1 mutation

Kim Chan Jong

Objectives: Vitamin D dependent rickets type I (VDDR-I) is an autosomal recessive disorder with impaired activation of vitamin D, caused by mutations in CYP27B1. Characteristic clinical features are hypotonia, muscle weakness, growth failure, hypocalcemic seizures in early infancy, and radiographic findings of rickets. We aimed to describe the clinical and laboratory findings in a VDDR-1 case and to report a mutation in CYP27B1.Methods and results: The p...

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ba0007p112 | (1) | ICCBH2019

Case report: investigation of an osteolytic lesion leading to the diagnosis of congenital generalized lipodystrophy due to a novel AGPAT2 mutation

Brener Avivit , Elkon-Tamir Erella , Zeitlin Leonid , Lebenthal Yael

Background: Osteolytic lesions can be the presenting manifestation of various medical conditions, including bone tumors (benign and malignant) and infectious and endocrine diseases.Presenting problem: A 19-year-old Bedouin male from a consanguineous family was referred to our medical center for orthopedic consultation due to a pathological fracture and a cystic lesion in his right ulna. A skeletal survey revealed another cystic lesion in the left tibia. ...

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ba0007p113 | (1) | ICCBH2019

Next-generation sequence and biomarker levels in the patients with early-onset chronic non-bacterial osteomyelitis from North Caucasian region of Russia

Kostik Mikhail , Makhova Maria , Suspitsin Evgeny , Sokolenko Anna , Zorin Vyacheslav , Isupova Eugenia , Magomedova Shamai , Kostik Inna , Takayanagi Hiroshi , Mushkin Alexander , Imyanitov Evgeny

Objectives: Chronic non-bacterial osteomyelitis (CNO) is a heterogenic group of immune-mediated inflammatory bone diseases with unclear pathogenesis. Only a few genes associated with this condition have identified. The aim of the study was to evaluate the spectrum of mutations in genes associated with primary immunodeficiency syndromes (PIDs) and autoinflammatory diseases (AIDs) in the cohort of patients with early-onset CNO from North Caucasus (Dagestan and Chechnya) and asse...

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ba0007p114 | (1) | ICCBH2019

Hypophosphatasia in Japan: ALPL mutation analysis in 98 patients

Michigami Toshimi , Tachikawa Kanako , Yamazaki Miwa , Kawai Masanobu , Kubota Takuo , Ozono Keiichi

Background: Hypophosphatasia (HPP) is caused by inactivating mutations in the ALPL gene encoding tissue-nonspecific alkaline phosphatase (TNSALP). HPP is variable in clinical manifestations and prognosis, and is generally classified into six subtypes: perinatal lethal, perinatal benign (prenatal benign), infantile, childhood, adult, and odonto HPP. Although genetic test is broadly used for diagnosis of HPP, the genotype-phenotype relationship still remains unclear.<p class...

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ba0007p115 | (1) | ICCBH2019

Mabry Syndrome is a cause of hyperphosphatasia and mental retardation

Tseretopoulou Xanthippi , Mughal Zulf , Mushtaq Talat

Background: Hyperphosphatasia may be seen in liver disorders or metabolic bone disease with the most common cause likely to be Vitamin D deficiency. However, we report the case of child who had high ALP levels from infancy along with intellectual retardation. Genetic testing revealed Mabry Syndrome.Presenting problem: At birth, a micrognanthia and a cleft palate was apparent. She went to have developmental delay, impaired vision, and was wheelchair depen...

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ba0007p116 | (1) | ICCBH2019

Molecular genetic diagnosis and genotype-phenotype correlations in children and adolescents with recurrent fractures

Del Gigante Jessica , Munns Craig , Biggin Andrew

Objectives: To evaluate the diagnostic outcomes of massively parallel sequencing (MPS) and identify genotype-phenotype correlations in children and adolescents with recurrent fractures.Methods: A retrospective chart audit was conducted of children and adolescents referred to the endocrine clinic at a tertiary childrens referral hospital with a history of recurrent fractures. Phenotypic data including fracture history, bone mineral density (BMD) and...

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ba0007p117 | (1) | ICCBH2019

Use of Lego® to explain genetic variations in type 1 collagen – a pilot study

Allgrove Jeremy , Heathfield Mark , Edwards Karen , Clark Chris , Hupin Emilie , Riddington Megan , Bultitude Alex , Crowe Belinda , DeVile Catherine

Objectives: To examine the usefulness of Lego® as a visual reinforcer to explain genetic mutations to parents and carers of children and young people who have osteogenesis imperfecta (OI).Methods: Before entering a dedicated OI clinic, patients and carers completed a quantitative questionnaire devised by one of the team (MR), asking how much they knew about the genetic mutations causing OI within their families and whether they wished for a more det...

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ba0007p118 | (1) | ICCBH2019

Methyl-CpG-binding protein 2 (MECP2) mutation type is associated with bone disease severity in Rett syndrome

Caffarelli Carla , Dea Tomai Pitinca Maria , Francolini Valentina , Canitano Roberto , De felice Claudio , Hayek Joussef , Gonnelli Stefano

Objective: Rett syndrome (RTT) is an X-linked neurodevelopment disorder. More than 95% of RTT female have mutations in methyl-CpG-binding protein 2 (MECP2), whose protein product modulates gene transcription. Specific MECP2 mutations may lead phenotypic variability and different degrees of disease severity. It is known that low bone mass is a frequent complication of subjects with Rett syndrome. This study aimed to investigate if specific MECP2 mutations may affects the degree...

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ba0007p119 | (1) | ICCBH2019

A novel mutation in FAM111A gene in child with Kenny-Caffey syndrome type 2 presenting with short statue, medullary stenosis and hypoparathyroidism

Srilanchakon Khomsak , Supornsilchai Vichit , Suphapeetiporn Kanya

Background: Congenital hypoparathyroidism in children is a condition with diverse genetic etiologies. Kenny-Caffey syndrome (KCS) is a rare genetic disorder characterized by hypoparathyroidism, short stature, cortical thickening and medullary stenosis of the tubular bone and dysmorphic features including micrognathia, prominent forehead and eye abnormalities. The autosomal dominant form of KCS [KCS type 2(KCS2)] is differenced from autosomal recessive form of KCS [KCS type 1 (...

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ba0007p120 | (1) | ICCBH2019

Mutational and phenotypic spectra in 137 Russian patients with inherited forms of rickets

Kulikova Kristina , Kolodkina Anna , Vasiliev Evgeny , Petrov Vasiliy , Tiulpakov Anatoly

Background: Inherited forms of rickets are metabolic bone diseases developing as a result of inadequate mineralization of a growing bone due to disruption of calcium, phosphorus and/or vitamin D metabolism. Diverse phenotypic presentation and aetiology of these disorders pose difficulties for the diagnosis and management.Objective and hypotheses: The aim of this study was to perform molecular diagnostics and clinically characterize 137 patients with here...

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ba0007p121 | (1) | ICCBH2019

An Acvr1[R258G] ‘conditional on' mouse model of atypical fibrodysplasia ossificans progressiva (FOP) is Activin A dependent

Huang Lily , Schoenherr Chris , Wang Lili , Wen Xialing , McClain Joyce , Zhang Qian , Nannuru Kalyan , Idone Vincent , Murphy Andrew , Economides Aris , Hatsell Sarah

FOP is an autosomal dominant disorder characterized by early onset, episodic and progressive ossification of skeletal muscle and associated connective tissue. FOP is driven by mutations in the intracellular domain of ACVR1 (ALK2), the most common of which is R206H. However, rare FOP causing mutations exist throughout the GS and the kinase domain of Acvr1. Several of these mutations result what appears to be a more severe FOP phenotype that includes significant developmental ab...

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ba0007p122 | (1) | ICCBH2019

Congenital hyperinsulinism of infancy in a child with autosomal dominant hypocalcaemia type 1 due to an activating calcium sensing receptor mutation

Sastre Ana , Shah Pratik , Gevers Evelien

Background: Autosomal dominant hypocalcaemia (ADH) is caused by activating mutations of the calcium sensing receptor (CaSR). Symptomatology ranges from asymptomatic hypocalcaemia to paraesthesia, tetani, laryngospasm and seizures. This is the first report of congenital hyperinsulinism (CHI) in a child with ADH.Presenting problem and clinical management: A female infant, born at term from non-consanguineous parents. She presented on D2 with persistent asy...

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ba0007p123 | (1) | ICCBH2019

Odontochondrodysplasia in association with a TRIP11 mutation

Sheridan Sabrina , McCarron Laura , Donnell Gillian O , McDonnell Ciara

Background: Pathogenic mutations in thyroid hormone receptor interactor 11 (TRIP11) have previously been associated with achondrogenesis1A, a lethal autosomal recessive skeletal dysplasia. Recent findings have suggested that hypomorphic mutations of TRIP11 result in odontochondrodysplasia (ODCD), a rare syndrome associated with spondylometaphyseal dysplasia and dentinogenesis imperfecta.Presenting problem: This is the case of a term female born to non-co...

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ba0007p124 | (1) | ICCBH2019

Heterozygous CDC73 mutation causing parathyroid adenoma in an adolescent girl presenting with mental health issues

Mulvey Ian , Ramakrishnan Renuka , Dharmaraj Poonam , Abernethy Laurence , Jones Matthew , Senniappan Senthil

Background: Primary hyperparathyroidism (PH), whilst common in elderly populations, is much rarer in adolescents. Although up to 90% of cases are sporadic in nature, hereditary cases make up less than 10% of remaining causes. Multiple genetic causes and syndromes have been described in the literature including multiple endocrine neoplasia (MEN), familial hypocalciuric hypercalcemia and hyperparathyroidism-jaw tumour syndrome (HPT-JT).Presenting problem: ...

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ba0007p125 | (1) | ICCBH2019

SCN8a mutations and osteoporosis. Is osteocyte dysfunction the cause or the consequence?

O'Donnell Gillian , Halpenny Leah , Burke Eleanor , McCarron Laura , Sheridan Sabrina , McDonnell Ciara

Background: Mutations in the SCN8a gene, which encodes one of the most abundant voltage gated sodium channels; Nav1.6, has a strong association with epileptic encephalopathy type 13, ataxia, muscle atrophy and intellectual disability. Previous cases of pathological skeletal fractures in children with known SCN8a mutations have been published but the source of the related skeletal mechanism remains unclear.Presenting problem: The proband presented at 15mo...

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ba0007p126 | (1) | ICCBH2019

Anemia - novel clinically significant finding during intravenous pamidronate therapy of children diagnosed with osteogenesis imperfecta

Michalus Izabela , Nowicka Zuzanna , Pietras Wiktoria , Nowicka Maja , Byrwa Agnieszka , Albińska Paulina , Jakubowska-Pietkiewicz Elzbieta

Osteogenesis imperfecta (OI) is a rare genetic disorder characterized by fragile bones susceptible to fractures. No definite cure for OI exists. Bisphosphonates, although not implicitly recommended in children due to deficient efficacy and safety data, have been administered off-label to OI patients for over 20 years. Short-term adverse effects of intravenously administered bisphosphonates are generally mild. Although anemia is a known side effect of bisphosphonates in adults,...

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ba0007p127 | (1) | ICCBH2019

Burosumab therapy in pediatric patients with X-linked hypophosphatemia improves body composition

Brener Avivit , Cleper Roxana , Lebenthal Yael , Zeitlin Leonid

Objective: Burosumab, a recombinant human monoclonal antibody that inhibits FGF23, was approved by the FDA in April, 2018 for the treatment of X-linked hypophosphatemia (XLH) in children and adults. XLH pediatric patients are typically affected with lower extremity deformities, short stature, bone pain, and limited physical activity. Burosumab is superior to conventional therapy in normalizing blood phosphate levels, thereby healing rickets, decreasing leg bowing, and reducing...

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ba0007p128 | (1) | ICCBH2019

Growth hormone effect on bone mineral density in a girl with osteogenesis imperfecta – a case presentation

Leka Sofia , Athanasouli Fani , Vlachopapadopoulou Elpis , Doulgeraki Artemis , Petrou Vassilios , Fotinou Aspasia , Michalacos Stefanos

Background: Osteogenesis imperfecta (OI) is characterized by bone fragility, resulting in low-energy fractures. Other features are compromised growth, blue sclerae, dental, cardiac and hearing abnormalities.Presenting problem: A girl with OI, hypothyroidism and growth hormone (GH) deficiency is presented. She was born at 32 weeks [birth weight: 1890 gr, length: 44 cm]. Her mother had OI and thyroid nodules. Both were found with heterozygous mutation in t...

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ba0007p129 | (1) | ICCBH2019

A smartphone-based survey of frequency and severity of adverse effects following bisphosphonate therapy in a Tertiary Paediatric Centre

Blackburn James , Price Victoria , Ramakrishnan Renuka , Dharmaraj Poonam

Objectives: The primary objective of this project was to determine the nature and timing of perceived early adverse effects associated with bisphosphonate therapy. Additional information was sought on how this affected the child and family, to determine if changes should be made to local guidelines.Methods: A Smartphone-based text message survey was sent to parents of patients receiving intravenous bisphosphonate therapy for primary and secondary osteopo...

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ba0007p130 | (1) | ICCBH2019

Off label uses of pamidronate in rare pediatric bone diseases (Jansen's Metaphyseal Chondrodysplasia and Generalized Arterial Calcification of Infancy): A four year perspective

Young Kyleen , Langman Craig , Jueppner Harald

Background: Pamidronate is FDA approved only in adults. It is frequently used off-label in the treatment of pediatric bone diseases, such as osteogenesis imperfecta, juvenile osteoporosis, and osteopenia in nonambulatory patients with cerebral palsy. The use of pamidronate in these conditions is relatively common, but there may be more to be understood about its role in other rare pediatric bone diseases.Presenting problem: Jansens Metaphyseal Chon...

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ba0007p131 | (1) | ICCBH2019

Use of intravenous pamidronate in pediatric acute lymphoblastic leukemia patients with osteonecrosis (ON) results in reduced pain and improved radiologic outcome of ON lesions: Long- term follow-up over 15-years

Miettunen Paivi , Moorani Vijay , Haider Seemab , Stephenson Seamus , Stephenson Chloe , Anderson Ronald

Background: Osteonecrosis (ON) has emerged as a debilitating complication of acute pediatric lymphoblastic leukemia (pALL), with severe pain and poor functional outcome. ON affecting weight bearing joints may eventually need arthroplasty, with large juxta-articular lesions being at highest risk. Intravenous Pamidronate (IV-PAM) is postulated to reduce pain and prevent joint collapse in ON.Objective: To study if IV-PAM was effective in 1) preventing joint...

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ba0007p132 | (1) | ICCBH2019

A prospective study of 17 consecutive pediatric patients with chronic non-bacterial osteomyelitis treated with intravenous pamidronate over a 15 year period at a single center reveals excellent clinical and radiologic outcome initially and after flare

Miettunen Paivi , Stephenson Chloe , Stephenson Seamus , Wei Xing-Chang

Objectives: To describe a prospective series of pediatric CNO (pCNO) patients treated with IV-Pamidronate (IV-PAM) regarding effect on 1) pain, 2) Whole Body Magnetic Resonance Imaging (WBMRI) documented inflammation; 3) Spinal CNO and 4) bone turnover.Methods: All pCNO patients (<18 years at diagnosis) with WBMRI confirmed active CNO who were treated with IV-PAM between 20032018. IV-PAM: First dose 0.5 mg/kg; subsequently 1 mg/kg (max dose 60 ...

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ba0007p133 | (1) | ICCBH2019

Losartan reduces circulating TGFb and CTX and increases vertebral bone mass in the OIM mouse

Bishop Nick , Kalajzic Ivo , Arshad Fawaz , Lefley Diane , Gossiel Fatma , Ottewell Penny

Objectives: Losartan is an angiotensin II receptor type 1 (AT1) antagonist. Losartan reduces circulating TGFb concentrations in a variety of myopathic models. We hypothesised that losartan administration to the murine osteogenesis imperfecta model OIM would result in lower circulating TGFb and CTX (bone resorption marker) and increase bone mass.Methods: All procedures were approved by UConn Health Institutional Animal Care and Use Committee and performed...

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ba0007p134 | (1) | ICCBH2019

First report of skin reaction with Zoledronic Acid

Olivier Patricia , Fiscaletti Melissa , Desroches Anne , Alos Nathalie

Adverse reactions to bisphosphonates are common and thus, most of them are predictable side effects to the drug. Allergic reactions or skin reactions of any type or severity associated with bisphosphonates have been scarcely described in the literature. Allergic and skin reactions to bisphosphonates have been estimated to occur in less than 1% of patients. The mechanism of these reactions is unknown, although it is presumed to be IgE mediated. All of the bisphosphonates share ...

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ba0007p135 | (1) | ICCBH2019

Oral ibandronate therapy in patients with osteogenesis imperfecta

Kutilek Stepan , Skalova Sylva , Plasilova Ivana

Background: Treatment with orally administered ibandronate is an effective way to increase bone mineral density (BMD) and reduce fracture rate in post-menopausal women and in men with osteoporosis. There are only very few reports concerning ibandronate therapy in children/adolescents, and in patients with osteogenesis imperfecta (OI), as bisphosphonates are off-label drugs in pediatrics.Case presentation: We present two patients with OI type I (14 year o...

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ba0007p136 | (1) | ICCBH2019

Intravenous bisphosphonate treatment in severe infantile hypercalcemia associated with Williams Syndrome

Guarneri Alissa M , Patel Nisha , Bowden Sasigarn A

Background: Infantile hypercalcemia occurs in ~15% of patients with Williams Syndrome (WS) and is typically mild. Severe hypercalcemia has been reported in infants/toddlers with WS, requiring treatment with intravenous (IV) saline hydration, furosemide, calcitonin, calcium and vitamin D restriction, and in some cases IV bisphosphonates.Presenting problem: Three cases of infants with WS age 913 months presented with severe hypercalcemia, failure to ...

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ba0007p137 | (1) | ICCBH2019

Reversion to pamidronate after switch to zoledronic acid in children with bone disease

Peacock Amanda , Bishop Nick , Platt Carolyn , Greenacre Gemma , Crossland C , Lee E , Arundel Paul

Objectives: From late 2015 a new protocol for zoledronic acid was adopted in our centre. This led to many children changing from pamidronate (PAM) to zoledronic acid (ZA) treatment. In a minority of cases the children and/or their families felt strongly that they wanted to change back to PAM. We present the characteristics of that minority and how bone turnover markers (BTMs) and bone mineral densities (BMD) changed whilst on ZA.Method: From Nov 2016 to ...

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ba0007p138 | (1) | ICCBH2019

How early is early enough – Bisphosphonate treatment in Osteogenesis imperfecta

Hoyer-Kuhn Heike , Heistermann Johanna , Schonau Eckhard , Rehberg Mirko , Semler Oliver

Objective: Osteogenesis imperfecta is characterized by hereditary skeletal fragility. Bisphosphonates are the first line medical treatment in moderate and severe OI types III/IV. There is no consensus regarding treatment beginning and treatment regimen in the first years. Objective of the presented project was the evaluation of the therapeutic effect of 1 year of bisphosphonate treatment (BP; neridronate i.v. 2 mg/kg body weight every 3 months) on vertebral shape and mobility ...

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ba0007p139 | (1) | ICCBH2019

Growth hormone therapy in a child with severe short stature due to Miller-McKusick-Malvaux (3M) syndrome-2

Seneviratne Sumudu , Silva Deepthi de , Cottrell Emily , Kuruppu Piumi , Silva KSH de , Storr Helen

Background: 3M syndrome is a primordial growth disorder caused by mutations in CUL7, OBSL1 or CCDC8. Affected individuals have severe short stature for which growth hormone (GH) therapy may have a role1. We present a 10-year-old girl from Sri Lanka with 3M syndrome-2 due to a mutation in OBSL1 gene, with good short-term response to growth hormone therapy.Presenting Problem: The only child of second-degree consanguineous parents, both themselve...

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ba0007p140 | (1) | ICCBH2019

Safety and effectiveness of stoss therapy in children

Fiscaletti Melissa , Tannous Paul , Wood Nicholas , Gunasekera Hasantha , Zurynski Yvonne , Biggins Andrew , Kilo Tatjana , Hayes Evan , Munns Craig

Objectives: Pediatric vitamin D (25-hydroxyvitamin D - 25OHD) deficiency can lead to nutritional rickets and extra-skeletal complications. Compliance with daily therapy can be difficult, making high dose, short-term vitamin D (stoss) therapy attractive to correct vitamin D deficiency. We compared the effectiveness and safety of standard versus stoss therapy in treating childhood 25OHD deficiency.Study design: Children aged 216 years with 25OHD &#60...

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ba0007p141 | (1) | ICCBH2019

Hypercalcaemia and osteonecrosis of the jaw in association with denosumab use in the paediatric population

Wall Christie-Lee , Pacey Verity , Gray Kelly , McGee Richard , Fiscaletti Melissa , Poon Myra , Biggin Andrew , Munns Craig

Background: Denosumab (DMAB) is used in adults for the treatment of osteoporosis, giant cell tumour of bone, and cancer metastases. There are little data on paediatric use with clinical decision making reliant on adult data and clinical experience.Presenting problem: We have treated 33 children with DMAB: Perthes disease (n=9), avascular necrosis (n=17), osteoporosis (n=1), aneurysmal bone cyst (n=4) and giant cell tum...

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ba0007p142 | (1) | ICCBH2019

Protocol: a randomized trial of zoledronate in children with cerebral palsy

Soerensen TH , Granild-Jensen Jakob Bie , Vestergaard Esben Thyssen , Rackauskaite Gija , Soendergaard Charlotte , Farholt Stense , Moller-Madsen Bjarne , Langdahl Bente

Objectives: Low bone mineral density is highly prevalent in non-ambulant cerebral palsy and is associated with a high risk of fractures. In most cases these fractures occur with no or minimal trauma. Primary and secondary fracture prevention strategies differ between sites and countries. In order to inform these strategies we intend to complete a trial of Zoledronate in children with Cerebral Palsy. We hypothesize that Zoledronate treatment significantly increases bone mineral...

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ba0007p143 | (1) | ICCBH2019

Intermittent bi-daily sub-cutaneous teriparatide infusion in children with hypoparathyroidism: a single-centre experience

Flammier Sacha , Bertholet-Thomas Aurelia , Tanne Corentin , Bacchetta Justine

Background: Pediatric hypoparathyroidism is an orphan disease. Conventional management combines native and active vitamin D, calcium supplementation and sometimes phosphate binders. The use of teriparatide has been reported both in adults (daily or bi-daily subcutaneous infusions) and in children (rather continuous subcutaneous infusion) as second-line therapy.Methods: We present as median (min-max) the results of a retrospective single-centre review of ...

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ba0007p144 | (1) | ICCBH2019

A multi-criteria decision analysis of the value of burosumab for the treatment of paediatric patients with X-linked hypophosphatemia in Portugal

Alves Ines , Francisco Telma , Pinto Helena , Sousa Sergio , Connor Paul , Amorim Miguel , Ramos Diogo , Azevedo Sofia , Vandewalle Bjorn

Objectives: Burosumab is an anti-FGF23 fully human monoclonal antibody, recently approved for the treatment of X-linked hypophosphatemia (XLH), presenting a novel treatment approach compared to conventional therapy (CT), composed of oral phosphate and active vitamin D. The objective of this study is to perform a Multi-Criteria Decision Analysis (MCDA) to assess the value of burosumab for the treatment of paediatric patients with XLH in Portugal, in comparison to CT.<p clas...

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ba0007p145 | (1) | ICCBH2019

Nine-month follow-up data on biochemical, clinical, radiological and functional parameters in a clinical cohort of children at Evelina London Children's Hospital with X-linked hypophosphataemia treated with Burosumab

Sandy Jessica L , Gilbey-Cross Robyn , Santos Rui , Sakka Sophia D , Cocca Alessandra , Morris Mavali , Cheung Moira S

Burosumab, a monoclonal antibody targeting fibroblast growth factor 23, is now available for clinical use in children with X-linked hypophosphatemia (XLH). We aimed to explore the effects of burosumab in children with XLH in a clinical setting, considering: a) Biochemistry b) Growth c) Lower limb deformity (LLD) d) Radiology e) Motor function<p class="abstext"...

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ba0007p146 | (1) | ICCBH2019

Does prior bisphosphonate therapy in children and adolescents with cerebral palsy alter surgical outcomes?

Fiscaletti Melissa , Loucos Robert , Jamil Kamal Abdul , Biggins Andrew , Munns Craig , Pacey Verity

Background: Children and adolescents with cerebral palsy (CP) experience musculoskeletal complications including spinal deformities, hip dysplasia and disuse osteoporosis. Bisphosphonates can improve bone mineral density, prevent fragility fractures. It is unclear if prior bisphosphonate use modifies post-operative complication in children with CP. Our aim was to compare surgical complications in children with CP with and without previous bisphosphonate treatment.<p class=...

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ba0007p147 | (1) | ICCBH2019

Changes in DXA Z-scores during bisphosphonate (BP) therapy in patients with osteogenesis imperfecta (OI) at a tertiary care hospital in South Africa

Siralarala Akhona , Pettifor John Morley , Thandrayen Kebashni

Objectives: The aim of this study was to evaluate and assess the change in bone mineral density in OI children treated with BPs at Chris Hani Baragwanath Academic hospital (CHBAH), South Africa.Methods: Medical files of 104 OI patients who were seen at Metabolic Bone clinic from 01 January 2006 till 31 December 2015 were reviewed. DXA measurements were available on 33 patients that received bisphosphonates from baseline and during therapy at three time p...

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ba0007p148 | (1) | ICCBH2019

Management of foramen magnum stenosis in patients with achondroplasia: relative merit of clinical and radiological indications for foramen magnum decompression

Almeida Timoteo , Singleton William , Monsell Fergal , Smithson Sarah , Edwards Richard , Burren Christine

Introduction: Achondroplasia, the commonest skeletal dysplasia, is caused by specific variant(s) in the fibroblast growth factor receptor 3 (FGFR3) gene that cause abnormal spine, skull and limb bone growth. Surgical indications for foramen magnum stenosis in this population vary widely in the literature.Methods: We performed a retrospective analysis of patients with achondroplasia aged >20 years (n=33) in our regional skeletal dysplasia cli...

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ba0007p149 | (1) | ICCBH2019

Bone mineral changes in 43 children with osteogenesis imperfecta treated by pamidronate

Kostik Mikhail , Idrisova Rena , Buklaev Dmitry , Bergaliev Arthur , Isupova Eugenia , Chikova Irina , Kalashnikova Olga

Objectives: The purpose of our study was to evaluate the bone mineral accrual in children with osteogenesis imperfecta (OI) treated by pamidronate (PAM).Methods: In retrospective study 43 children with different types of OI were included: 17 boys (39.5%) and 26 girls (60.5%). According to clinical OI, patients were: OI I type -13 (30.2%), OI III type 24 (55.9%) OI IV type 4 (9.3%), OI V type 1 (2.3%) and Bruck syndrome 1 (2.3%). The standar...

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ba0007p150 | (1) | ICCBH2019

Osteogenesis imperfecta: skeletal outcomes after bisphosphonates discontinuation at final height

Robinson Marie-Eve , Trejo Pamela , Palomo Telma , Glorieux Francis H , Rauch Frank

Objectives: Intravenous cyclical bisphosphonates are widely used to treat children with moderate to severe osteogenesis imperfecta (OI). They increase bone mineral density (BMD), diminish fracture rates and improve mobility. Bisphosphonates are often discontinued when growth is completed. We aimed to determine if the skeletal gains achieved with bisphosphonates persist after their discontinuation in patients with OI.Methods: We assessed patients with OI ...

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ba0007p151 | (1) | ICCBH2019

The safety and efficacy of denosumab versus zoledronic acid in the treatment of pediatric osteoporosis: a randomized controlled pilot trial

Robinson Marie-Eve , Ma Jinhui , Khan Nasrin , Khatchadourian Karine , Page Marika , Konji Victor , Ann Matzinger Mary , Shenouda Nazih , Jaremko Jacob L , Zuijdwijk Caroline , Jackowski Stefan , Saleh David , MacLeay Lynn , Siminoski Kerry , Ward Leanne M

Objectives: Denosumab (Dmab) is a monoclonal antibody targeting RANKL administered by sub-cutaneous injection. Given its convenient mode of administration, our goal was to assess the safety and efficacy of Dmab compared to intravenous zoledronic acid (ZA) in pediatric osteoporosis.Methods: In this one-year pilot study (NCT02632916), children 416 years with low-trauma fractures due to osteoporosis were randomized 1:1 to receive ZA 0.025 mg/kg or Dma...

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ba0007p152 | (1) | ICCBH2019

An evaluation of the rebound phenomenon during denosumab therapy in children with low turnover osteoporosis

Robinson Marie-Eve , Ma Jinhui , Khan Nasrin , Khatchadourian Karine , Page Marika , Konji Victor , Ann Matzinger Mary , Shenouda Nazih , Jaremko Jacob L , Zuijdwijk Caroline , Jackowski Stefan , Saleh David , MacLeay Lynn , Siminoski Kerry , Ward Leanne M

Objectives: Denosumab (Dmab) is a monoclonal antibody targeting RANKL administered by sub-cutaneous injection. Recent reports have raised concern about the rebound phenomenon (hypercalcemia and increases in bone turnover markers, BTM) following Dmab in adults, and during treatment in children with osteogenesis imperfecta. The purpose of this report was to explore this phenomenon in children with osteoporosis associated with lower bone turnover.<p class="abstext...

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ba0007p153 | (1) | ICCBH2019

Long-term growth hormone treatment alters glucose metabolism in achondroplasia

Harada Daisuke , Kashiwagi Hiroko , Ueyama Kaoru , Oriyama Kyoko , Hanioka Yuki , Sakamoto Natsuko , Kondo Masafumi Izui Kawai , Nagamatsu Yuiko , Yamada Hiroyuki , Seino Yoshiki , Namba Noriyuki

Objective: To investigate the effect of growth hormone (GH) treatment on glucose metabolism in achondroplasia (ACH) patients.Patients and methods: Twenty-five GH-treated (0.35 mg/kg/week) ACH patients (10 males and 15 females) were included in this study. Oral glucose tolerance test (OGTT) was performed at three time points; pre-treatment (age: 4.0±1.9 years), post short-term treatment (age: 6.5±3.0 years), and pos...

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ba0007p154 | (1) | ICCBH2019

Self-reported sedentary time is negatively associated with microarchitecture of the tibia

Moon Rebecca , Gillespie Tom , Quiney Naomi , Cooper Cyrus , Harvey Nicholas , Davies Justin

Objectives: Weight bearing physical activity (PA) is thought to be beneficial to bone mineral accrual in childhood, but the influence of PA and sedentary time on bone microarchitecture is less well described. We examined the relationships between self-reported PA and volumetric bone mineral density (vBMD) and bone microarchitecture at the distal tibia, assessed using high resolution peripheral quantitative computed tomography (HR-pQCT).Methods: Healthy c...

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ba0007p155 | (1) | ICCBH2019

Gender specific paediatric reference data for muscle function parameters assessed using jumping mechanography

Palande Sonal , Ekbote Veena , Chiplonkar Shashi , Padidela Raja , Mughal Zulf , Vispute Smruti , Rawer Rainer , Khadilkar Anuradha , Khadilkar Vaman

Objective: Bone adapts to mechanical stimuli by increasing its mass and changing geometry; muscles are the stimulators for this change as they induce forces through contractions. Thus, bone strength is driven by muscle function. Research has shown that muscle mass and muscle function may not be proportional and hence analysing muscle function becomes of crucial importance. Here we propose to establish gender specific paediatric reference data for muscle function parameters ass...

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ba0007p156 | (1) | ICCBH2019

Patients with nephropatic cystinosis display lower cortical thickness and grip strength

Bechtold-Dalla Pozza Susanne , Froschauer Sonja , Harms Erik , Herzig Nadine , Holla Heike , Knerr C , Koeppel Christian , Landthaler I , Prilinger C , Steidle G , Vill Katharina , Treikauskas Ulrike , Hohenfellner Katharina

Objective: Nephropathic cystinosis is an orphan autosomal recessive lysosomal storage disease characterized by a deficiency of cystinosin, a cysteine transporter protein, encoded by CTNS. As a consequence of the disease cystine crystals accumulate leading to tissue damage, primarily in kidney and cornea. With improved medical care, new challenges like skeletal complications are a matter of concern. Only few data are available dealing with bone development. The aim of our study...

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ba0007p157 | (1) | ICCBH2019

Gonadotrophin releasing hormone analogues utilised in late and post-pubertal adolescents causes a reduction in bone density in transgender teenagers attending a national gender dysphoria clinic

Tseretopoulou Xanthippi , Amin Nadia , Sabah Alvi , Mushtaq Talat

Objectives: Gender Dysphoria (GD) occurs when a persons gender identity differs from their biological sex. GID presenting in childhood can dissipate at puberty. If it persists, physical interventions commence with the use of a GnRH analogues (GnRHa) for one year followed by cross sex hormones.Methods: Adolescents with a diagnosis of GD were reviewed in a national GD clinic at Leeds Teaching Hospitals, UK. Standardised medical assessments included c...

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ba0007p158 | (1) | ICCBH2019

Association of grip strength and body composition in Indian boys and girls

Palande Sonal , Ekbote Veena , Chiplonkar Shashi , Vispute Smruti , Khadilkar Vaman , Khadilkar Anuradha

Objectives: Association of grip strength (GS) with anthropometric parameters has been reported. Our objective was to assess grip strength in 6 to 18-year-old healthy Indian children (urban and rural) and study the association of GS with body composition.Methods: This was a part of a multicenter, cross-sectional, observational school-based study; multi-stage stratified random sampling was carried out and children (n=1980) from various urban (...

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ba0007p159 | (1) | ICCBH2019

Determinants of muscle function in 6 to 11 year old rural Indian children

Palande Sonal , Ekbote Veena , Chauthmal Sujata , Vispute Smruti , Chiplonkar Shashi , Khadilkar Vaman , Khadilkar Anuradha

Objective: Children in rural areas have inadequate nutritional intake, hence their muscle function may be compromised. The objective of this study was to study the determinants of muscle function in rural Indian school going children.Methods: We cross sectionally studied 232 prepubertal school going children (106 girls) aged 611 years, from 2 different villages in rural area around Pune city in July 2018. Height, weight, body composition (bioelectr...

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ba0007p160 | (1) | ICCBH2019

Assessment of muscle mass and function in Indian children with type 1 diabetes

Palande Sonal , Lohiya Nikhil , Ekbote Veena , Khadilkar Anuradha , Khadilkar Vaman , Chiplonkar Shashi

Objective: Type 1 diabetes (T1D) in one of the commonest chronic childhood disorders; poor muscle function and sarcopenia has been reported among T1D in adults. Reports on the impairment of muscle function are scarce in children. Our objective was to assess muscle mass and function in children with diabetes and study association of muscle mass and function with control of blood glucose (as measured by HbA1C) and disease duration.Methodology: This was a c...

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ba0007p161 | (1) | ICCBH2019

Endocrinological complications in Czech paediatric patients with Duchenne muscular dystrophy

Sediva Marie , Soucek Ondrej , Haberlova Jana

Objectives: Duchenne muscular dystrophy (DMD) is a rare hereditary X-linked muscular dystrophy affecting approximately 1:5.000 live borne males. The mobility and respiratory complications have been improved by implementing the glucocorticoid treatment in DMD, however, secondary osteoporosis, short stature and delayed puberty emerged as unwanted side-effects of the treatment. We aimed to evaluate the endocrinological complications in boys with DMD followed at our neuromuscular ...

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ba0007p162 | (1) | ICCBH2019

Bone monitoring and morbidity in adults with duchenne muscular dystrophy: Challenges in implementation of standards of care

Harris Anne-Marie , Di Marco Marina , Raeside David , Davidson Scott , Gallacher Stephen , Farrugia Maria , Wong Sze Choong

Background: Osteoporosis is common in subjects with Duchenne muscular dystrophy (DMD). Studies in paediatric DMD identified a high frequency of fragility fractures but there are no studies in the adult population. Recent updated international standards of care (2018) for children and adults with DMD recommend the following for bone monitoring:- Lateral thoracolumbar spine x-rays to screen for vertebral fracture (12 yearly if on glucocorticoid; 2&#1...

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ba0007p163 | (1) | ICCBH2019

Prenatal oligohydramnios is associated with hip shape in adolescent males

Tobias Jon , Frysz Monika , Lawlor Debbie , Aspden Richard , Gregory Jennifer , Ireland Alex

Hip development is influenced by mechanical loading during fetal movement by joint and reaction forces equivalent to several times bodyweight. These forces increase with fetal size and gestation length, and are lower in oligohydramnios and breech presentation which are both risk factors for developmental hip disorders. However, associations between indicators of prenatal mechanical loading and hip shape in later life remain unexplored. We therefore examined associations betwee...

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ba0007p164 | (1) | ICCBH2019

Musculoskeletal deficits persist up to two years despite anti-TNF-alpha antibody therapy in children with Crohn's disease: Results of a prospective, observational inception cohort study

Jackowski Stefan A , Ma Jinhui , Benchimol Eric I , Rauch Frank , Leonard Mary B , Zemel Babette S , Matzinger Mary Ann , Shenouda Nazih , Lentle Brian , Jaremko Jacob L , Khatchadourian Karine , Robinson Marie-Eve , Konji Victor N , Siminoski Kerry , Mack David , Ward Leanne M

Objectives: To evaluate musculoskeletal trajectories in children with newly diagnosed Crohns disease (CD), and to determine whether children treated with anti-tumour necrosis factor-alpha antibody (anti-TNF, TREATED vs NAÏVE) had persistent deficits at two years.Methods: This was a single-centre prospective, observational inception cohort study. Children with CD underwent assessments within 6.5±9.5 days from diagnosis and annually for two...

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ba0007p165 | (1) | ICCBH2019

Fibroblast growth factor-21 (FGF-21) – marker of mineral bone disorder

Ticha Lubica , Kovalčikova Alexandra Gaal , Čagalova Alžbeta , Šebekova Katarina , Podracka Ludmila

Introduction: FGF-21 is a protein that is produced by the liver and adipocytes. In patients with anorexia nervosa (AN), it could be involved in a complex adaptive response to starvation. In addition, this newly discovered protein could play pathogenic role in trabecular skeletal homeostasis. The aim of our work was to evaluate the concentrations of FGF-21 and bone metabolism in patients with AN.Methods: Thirty seven female patients (aged 14.76±3.99 ...

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ba0007p166 | (1) | ICCBH2019

The ketogenic diet and bone density: a retrospective longitudinal cohort study

Draaisma Jos , Hampsink Brieke , Willemsen Michel , Linders Miel , van Houdt Nicole

Background: The Ketogenic Diet Treatment (KDT) is a well-established intervention for intractable childhood epilepsy and the first choice treatment for Gluccose-1-transporter-deficiency-syndrome and Pyruvate-dehydrogenase-complex deficiency. During long-term follow up of children treated with KDT an increased incidence of bone fractures has been found. However, the exact contribution of KDT to a decreased BMD remains unclear. Prophylactic supplementation with calcium and vitam...

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ba0007p167 | (1) | ICCBH2019

Children's multivitamins do not contain sufficient vitamin D

Moon Rebecca , Curtis Elizabeth , Cooper Cyrus , Davies Justin , Harvey Nicholas

Objective: Public Health England recommends that children in the United Kingdom (UK) aged over 1 year should take a vitamin D supplement containing 400 IU/day. Commercially available childrens multivitamin and vitamin D supplements were surveyed to determine the vitamin D content.Methods: Multivitamins and vitamin D supplements marketed at children <12 years and sold by nine UK supermarkets and health supplement retailers were surveyed. The vit...

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ba0007p168 | (1) | ICCBH2019

Abstract withdrawn....

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ba0007p169 | (1) | ICCBH2019

Rescue diet restores bone matrix mineralization in mice with a non-functioning vitamin D receptor

Misof Barbara , Blouin Stephane , Hartmann Markus , Hofstaetter Jochen , Klaushofer Klaus , Zwerina Jochen , Roschger Paul , Erben Reinhold

Objectives: Mice with a non-functioning vitamin D receptor (VDR mutants) develop severe secondary hyperparathyroidism, which can be rescued by a diet enriched with calcium, phosphate and lactose. In this work, we studied the effects of a low calcium challenge (CD), normal calcium (ND) and a calcium enriched rescue diet (RD) on the bone mineralization density distribution (BMDD) and osteocyte lacunae sections (OLS) in these mice.Methods: BMDD and OLS were...

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ba0007p170 | (1) | ICCBH2019

Serum 25-hydroxyvitamin D requirements to prevent rickets in Nigerian children on a calcium-deprived diet

Thacher Tom , Sempos Christopher , Durazo-Arvizu Ramon , Munns Craig , Fischer Philip , Pettifor John

Objectives: Nutritional rickets results from the interaction of poor vitamin D status and limited calcium intake. Vitamin D requirements are greater in children with limited intake of calcium. We sought to determine the serum 25-hydroxyvitamin D [25(OH)D] concentration that can prevent rickets in calcium-deprived Nigerian children.Methods: We reanalyzed data from a case-control study of Nigerian children with active rickets (cases) and age-, sex-, and we...

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ba0007p171 | (1) | ICCBH2019

Seasonal variations in vitamin D status in children with haematological malignancies in Sweden

Jackmann Natalja , Makitie Outi , Harila-Saari Arja , Gustafsson Jan , Dernroth Dzeneta Nezirevic , Frisk Per

Data on the prevalence of vitamin D deficiency/insufficiency in children with haematological malignancies (HM) in Sweden are scarce. Our studies indicate that one third of children with HM had vitamin deficiency/insufficiency already at the time of diagnosis. In this study, we aimed to investigate the impact of season and age at HM onset on vitamin D status by analysing 25(OH)D levels in two different age groups: children ≤6 years of age, and children >6 years of age...

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ba0007p172 | (1) | ICCBH2019

Cow's milk allergic infants on amino acid-based medical nutrition formula maintain adequate serum concentrations of phosphorus, calcium and magnesium despite the use of acid-suppressive medication

Harvey Bryan M , Eussen Simone RBM , Helvoort Ardy van , Harthoorn Lucien F

Objectives: We recently demonstrated that cows milk allergic infants who received an amino acid-based formula (AAF) for 16 weeks as oral feeding had adequate mineral status (1). One factor that may negatively affect mineral solubility and bioavailability and hence mineral status, is high gastric pH (2), but data on this in infants are lacking. Therefore, the present study evaluates serum concentrations of phosphorus, calcium and magnesium in a subgroup of infants on AAF ...

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ba0007p173 | (1) | ICCBH2019

Motor and nutritional aspects of individuals with osteogenesis imperfecta assisted in Brazilian midwest region

Castro Luiz Claudio de , Coelho Giovana , Luiz Livia , David Ana Cristina de

Objective: To characterize a group of children with Osteogenesis Imperfecta (OI) followed up at the University Hospital of Brasília (HUB), Brazil.Methods: Data were collected with children and adolescents that were hospitalized in the HUB for intravenous pamidronate infusion treatment. This hospital is an OI reference center of the Midwest region in Brazil. The sample consisted of thirty-eight subjects, of which 50% were female. 52% of the children ...

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ba0007p174 | (1) | ICCBH2019

Supplementation of children with type 1 diabetes with milk or pharmacological calcium for improving bone health – a randomized controlled trial

Palande Sonal , Lohiya Nikhil , Mughal Zulf , Padidela Raja , Chiplonkar Shashi , Ekbote Veena , Khadilkar Anuradha , Khadilkar Vaman

Objective: Using DXA, we have previously reported that children with type 1 diabetes (T1D) had short and thin bones (Bone, 2015). Calcium supplementation promotes bone mass accrual with sustained benefit observed using milk/milk-based calcium but not calcium salts. To investigate effect of 1-year supplementation with milk vs pharmacological calcium salt on bone mineral density (BMD) and geometryin Indian underprivileged children with T1D. Both groups received vitamin D supplem...

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ba0007p175 | (1) | ICCBH2019

Dietary behaviours and compromised nutritional intakes in children with Osteogenesis Imperfecta

Mills Lisa , Clark Robert , Birch Laura , Burren Christine P

Background: Nutrition is a cornerstone of child health. Appropriate nutrient intake contributes to bone health, relevant to conditions of bone fragility. Nutrient intake in chronic conditions can be adversely affected by altered dietary behaviours such as mealtime behaviour and food choice. Dietary behaviour and nutrient intake have not been explored in children with Osteogenesis Imperfecta (OI), the commonest cause of childrens bone fragility.Aim:...

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ba0007p176 | (1) | ICCBH2019

Prevalence of vitamin D deficiency in newly diagnosed children with cancer

Kecskemethy Heidi , Su Annelise , Bachrach Steven , Fullmer Michell

Objectives: 1) To determine the prevalence of Vitamin D deficiency in children with newly diagnosed cancer; 2) Compare Vitamin D levels of children with and without cancer; 3) Evaluate race and sex differences in Vitamin D levels.Methods: IRB approved retrospective review of medical records from our pediatric tertiary care center from 20112018. Inclusion criteria were serum 25-OH D within 3 months of oncology diagnosis and other non-oncology diagno...

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ba0007p177 | (1) | ICCBH2019

Feasibility of a 13-week targeted exercise intervention on tibial bone mineral density in adolescents with Developmental Coordination Disorder

Tan Jocelyn , Siafarikas Aris , Hands Beth , McIntyre Fleur , Hart Nicolas , Rantalainen Timo , Chivers Paola

Objectives: Adolescents with Developmental Coordination Disorder (DCD) have significantly lower bone mineral density (BMD) compared to their non-affected peers. Their difficulty in performing weight bearing movement skills is hypothesised to explain poorer bone characteristics. This feasibility study examined the impact of a 13-week exercise intervention on tibial bone parameters in adolescents with DCD.Methods: Twenty-eight adolescents with DCD particip...

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ba0007p178 | (1) | ICCBH2019

The role of hydrotherapy in the management of children with severe Osteogenesis Imperfecta

Hupin Emilie , Edwards Karen , DeVile Catherine

Background: Osteogenesis Imperfecta (OI) is most commonly caused by a defect in the genes which produce type 1 collagen. Features of OI include fractures, hypermobility and weakness. Severely affected children can present with deformities such as bowing of long bones and spinal curves. Mobility may be significantly impaired. The medical management of children with severe OI includes orthopaedic surgery and bisphosphonate treatment. Physiotherapy to promote function and partici...

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ba0007p179 | (1) | ICCBH2019

Clinical and radiological characteristics of children's forearm deformations with hereditary multiple exostosis (Clinical observation)

Belousova Ekaterina

Objectives: Frequency of occurrence of forearm deformations developed against the background of a hereditary multiple exostosis (HME) in children reaches 3080%. The clinical and radiological data of forearm deformities have not been sufficiently researched yet. The purpose of our research is specification of childrens forearm deformities developed against the background of HME.Methods: Retrospectively and prospectively we selected and analyze...

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ba0007p180 | (1) | ICCBH2019

A retrospective review of modern spine surgery in the skeletal dysplasia population

Lovecchio Francis , Shafi Karim , Steinhaus Michael , Samuel Andre , Farmer James , Sava Maria , Carter Erin , Raggio Cathleen

Objective: Existing case series examining outcomes following spine surgery for patients with skeletal dysplasias demonstrate high rates of complications. Yet, these earlier studies are from a single institution, contain surgeries performed almost 50 years ago, and only include patients with a diagnosis of achondroplasia. The objective is to determine contemporary outcomes after spinal surgery in patients with skeletal dypslasias, focusing on complications and revisions. We pre...

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ba0007p181 | (1) | ICCBH2019

Walking quality of children with healed Perthes disease

Jamil Kamal , Fuller Joel , Li Jamie , Bucknell Michael , McKay Marney , Baldwin Jennifer , Burns Joshua , Munns Craig , Pacey Verity

Objectives: Children with Perthes disease may present with altered walking patterns even at the healed stage of the disease. The aim of the study was to assess the walking endurance, fatiguability and gait changes of children with healed Perthes disease, and to determine if walking endurance is associated with hip function and quality of life.Methods: Fifty-one children (38 males) aged 816 years with >3 years post-diagnosis of Perthes disease c...

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ba0007p182 | (1) | ICCBH2019

Handgrip strength as functionality and independence indicative in Osteogenesis Imperfecta

Claudio de Castro Luiz , Luiz Livia , Coelho Giovana , Cristina de David Ana

Objectives: This study aimed to correlate handgrip strength and functionality of children with Osteogenesis Imperfecta (OI).Methods: Thirty-eight children and adolescents with different types of OI were single-timed evaluated during their hospitalization for pamidronate intravenous infusion at the University Hospital of Brasília, Brazil. This hospital is the Brazilian Midwest reference for OI treatment through the national health system. These child...

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ba0007p183 | (1) | ICCBH2019

Functional outcomes of an adult with Osteogenesis Imperfecta after rehabilitation post-bilateral Girdlestone procedure: a case report

Supnet Isabella , Abiera Joycie Eulah , Alcausin Maria Melanie Liberty , Javier Juanito , Sumpaico Carlo Emmanuel

Osteogenesis imperfecta is a disorder characterized by bone fragility. Current management includes the usage of bisphosphonates to improve bone stock and manage pain. Outcomes in adults have mainly been reported in terms of presentation compared to genotype, most probably due to the heterogeneity of the disease. The head and neck resection of the femur, or Girdlestone procedure, was a common procedure to treat infections of the hip but it has fallen out of favor due to the adv...

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ba0007p184 | (1) | ICCBH2019

Material based on bioactive glass to replace bone defects in children after removal of tumors

Protsenko Volodymyr , Abudayeh Audai

Objectives: Orthopedics use many different biological grafts, organic, inorganic and synthetic materials to replace residual bone defects. Recently, materials based on bioactive glass, which have a more effective osteostimulating factor, are being actively studied.Methods: Bioactive glass based material is a multiphase inorganic material synthesized by chemical deposition and ceramic technology, having osteoinductive and osteoconductive properties, quick...

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ba0007p185 | (1) | ICCBH2019

High impact exercise to improve musculoskeletal outcomes in Crohn's disease: a feasibility questionnaire

Steell Lewis , Gaya Daniel R , Macdonald Jonathan , Russell Richard K , Seenan John Paul , Wong Sze Choong , Gray Stuart

Objective: Bone and muscle deficits are observed in patients with Crohns disease (CD). High-impact exercise (HIE), such as jumping based exercise, can provide hypertrophic and osteogenic stimulus, however to date there have been no studies of HIE in CD. This study aimed to assess the acceptability and feasibility of participating in HIE in adolescents and adults with CD.Methods: Two anonymous questionnaires surveyed adolescents and adults, respecti...

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ba0007p186 | (1) | ICCBH2019

Severe osteoporosis with life threatening vertebral fractures in a 15-years-old boy with juvenile idiopathic arthritis: a successful spinal cord decompression and posterior spinal fusion Th2-Th12

Abramowicz Pawel , Grabala Pawel , Guszczyn Tomasz , Stawicki Maciej , Konstantynowicz Jerzy

Background: Chronic rheumatic conditions including juvenile idiopathic arthritis (JIA) lead to the deterioration of bone mineral metabolism and confers risk of fragility fractures. Although contemporary medical therapies have limited skeletal complications in JIA, some rare cases of severe osteoporosis are still reported in these patients. Systemic glucocorticoid (GCS), long-term inflammation, and disease-related immobility are responsible to skeletal damage in JIA.<p clas...

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ba0007p187 | (1) | ICCBH2019

Increased prevalence of overweight and obesity and its clinical predictors in children affected by X-linked hypophosphatemia

Zhukouskaya Volha V , Rothenbuhler Anya , Colao Annamaria , Di Somma Carolina , Kamenicky Peter , Trabado Severine , Prie Dominique , Audrain Christelle , Barosi Anna , Kyheng Christele , Lambert Anne-Sophie , Linglart Agnes

Background/aim: X-linked hypophosphatemia (XLH) is a rare disease characterized by low phosphate level. Scientific evidence points to link between hypophosphatemia and obesity in general population. The aim of our longitudinal observational study was to investigate the prevalence of obesity and associated factors in a large cohort of children with XLH.Patients/methods: We selected 172 XLH-children of 520 years (113 girls/59 boys). Anthropometric pa...

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ba0007p188 | (1) | ICCBH2019

Impact of type 1 diabetes mellitus on skeletal integrity and strength in adolescents aged 12 to 16 years; as assessed by High Resolution peripheral Quantitative Computed Tomography (HRpQCT)

Devaraja Janani , Dimitri Paul , Paggiosi Margaret , Clark Carolyn , Jacques Richard , Bishop Nick

Objectives: To investigate the impact of Type 1 Diabetes Mellitus (T1DM) on cortical and trabecular microarchitecture, and bone strength in adolescents; using High Resolution peripheral Quantitative Computed Tomography (HRpQCT) and microfinite element analysis. To our knowledge, this is the first study in children, assessing the impact of T1DM on skeletal microstructure and strength using HRpQCT.Methods: We recruited 22 patients aged 1216 years wit...

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ba0007p189 | (1) | ICCBH2019

Cleidocranial dysplasia: a patient with severe dental phenotype

Doulgeraki Artemis , Gatzogianni Margarita , Gyftodimou Yolanda , Polyzois Georgios , Athanasopoulou Helen , Agouropoulos Andreas

Background: Cleidocranial dysplasia (CCD) is an ultra-rare (1/1,000,000) genetic bone disorder, characterized by hypoplastic or aplastic clavicles, persistence of wide-open fontanelles and multiple dental abnormalities. It is caused by mutations in the RUNX2 gene, involved in the differentiation of osteoblasts.Presenting Problem: A case of a 13 year-old girl with a clinical diagnosis of CCD is reported. Her clavicles were hypoplastic and her shoulders co...

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ba0007p190 | (1) | ICCBH2019

Cone-shaped epiphyses involving the knees: report of a case and differential diagnosis

Doulgeraki Artemis , Lykopoulou Lilia , Georgiadou Elissavet , Stelianidi Athanasia , Dermentzoglou Vasiliki , Anastasopoulos John , Kanaka-Gantenbein Christina

Background: Metaphyseal chondrodysplasias with cone-shaped epiphyses and cup-shaped metaphyses are very rare. We present a case with this particular skeletal phenotype, along with its differentials.Presenting Problem: Our female patient, aged 3.8 years, was the 2nd child of healthy, unrelated Greek parents, who were worried about her bilateral knee stiffness, which resulted in a limp and also in walking with her knees bent. At presentation, she was noted...

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ba0007p191 | (1) | ICCBH2019

Supporting the emotional well-being of children living with osteogenesis imperfecta; an upstream health promotion initiative

Seasman Ali

Background: Sheffield Childrens NHS Foundation Trust offers a highly specialised metabolic bone service for children and young people living with Osteogenesis Imperfecta (OI). OI is a chronic health condition causing bone fragility, bone pain, bone deformity, frequent fractures and variable physical limitations with wide reaching consequences on both children and families; the potential to experience elevated psychological distress is common.Presen...

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ba0007p192 | (1) | ICCBH2019

Developing a high chair to meet the needs of infants with Achondroplasia; a collaboration between Evelina London Children's Hospital and Brunel University

Massey Jill , Phillips Kathryn , Lawrence Jack , Davies Angharad , Harris Laura , Cocca Alessandra , Spinelli Gabriella , Garaj Vanja , Irving Melita , Cheung Moira

Achondroplasia is the commonest form of dwarfism. Key features in infancy impacting positioning are rhizomelia, spinal deformities and large head size. Both standard high chairs and specialized adaptive seating are currently inadequate to meet the needs of these infants. This is due to their anatomical limitations and the guidance for supportive positioning in this group of children, which recommend that a flat, elongated spine is optimal, avoiding a C shape, as is...

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ba0007p193 | (1) | ICCBH2019

Double trouble: A case of trisomy 21 and achondroplasia

Todd Stacey , Mason Avril , McDevitt Helen

Background: The co-occurrence of achondroplasia with Trisomy 21 is extremely rare, with only a handful of published case reports in the literature.Presenting Problem: A baby girl had an antenatal diagnosis of incomplete atrioventricular septal defect (AVSD), and a subsequent postnatal diagnosis of Trisomy 21. At birth she had respiratory distress and required CPAP until 5 days of life. AVSD was confirmed on postnatal ECHO. Phenotypic traits consistent wi...

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ba0007p194 | (1) | ICCBH2019

Skeletal dysplasia in Saul Wilson syndrome

Ljungberg Merete , Buciek Hove Hanne

Background: Since Microcephalic osteoplasic dysplasia; Saul Wilson Syndrome (SWS) was first reported by Saul and Wilson in 1990 only 14 cases have been reported worldwide. In 2018 Ferreira et al identified the pathophysiological mechanism for SWS as a recurrent De Novo Heterozygous COG4 Substitution.Objective: To describe the diagnostic process in a case of SWS.Presenting problem: The patient is the first-born child of healthy, non...

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ba0007p195 | (1) | ICCBH2019

Growth velocity measured by biomarker, COLX, in Achondroplasia

Hove Hanne

Objectives: Achondroplasia (ACH), caused by a mutation in the fibroblast growth factor receptor 3 gene (FGFR3), leads to inhibition of endochondral bone growth. Three potential treatments all targeting the FGFR3 on different levels of the pathway are under development. To compare the different approaches there is a need for precise measurements of efficacy. COLX and other biomarkers of bone growth are biological by-products of endochondral bone growth. A nationwide study of AC...

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ba0007p196 | (1) | ICCBH2019

Sleep related problems in children with osteogenesis imperfecta

Murphy Kieran , Hill Claire , Barker Nicki , Kingshott Ruth

Osteogenesis Imperfecta (OI) is a genetic disorder affecting 1 in 10,000 births with a wide variability in phenotypes. Clinical Manifestations include; recurrent fractures, bone pain, varying degrees of short stature and deformity, scoliosis, kyphosis, and respiratory failure in the severest types. Sleep disorders are under-acknowledged and are often more problematic in children with chronic illnesses. Moldosky1 identified the link between pain affecting quality of ...

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ba0007p197 | (1) | ICCBH2019

A playful type of intervention for infants with osteogenesis imperfecta

Jones Rebecca , Ford Davina , Marr Caroline , Seasman Alison , Pickett Clare , Team Metabolic Bone

Background: Play Plans are now being routinely used at the NHS England Sheffield Severe, Complex and Atypical Osteogenesis Imperfecta Service (SCAOI) as an intervention designed to enhance early development. These plans are MDT formulated and encompass carefully targeted activities designed to meet the childs needs at their exact stages of development across five domains; Cognition, Social & Emotional Development, Motor, Adaptive Skills and Communication ...

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ba0007p198 | (1) | ICCBH2019

The multidisciplinary team (MDT) approach: What does it look like and why does it matter? An illustration of a true MDT approach to provide holistic care for a child with severe and complex osteogenesis imperfecta

Jones Rebecca , Seasman Alison , Marr Caroline , Bone Team Metabolic

Background: Addressing the needs of a child with Severe, Complex or Atypical Osteogenesis Imperfecta (SCAOI) requires a full MDT approach to enable the child to access their environment and meet their true potential. MDT input is essential in ensuring the delivery of medicine, participation in meaningful activity and supporting of the functioning of the child and family in complex systems.Presenting problem: Osteogenesis Imperfecta (OI) impacts upon all ...

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ba0007p199 | (1) | ICCBH2019

Diversity of outcomes in randomised trials of interventions for children with osteogenesis imperfecta

McGee Richard , Wall Christie-Lee , Biggin Andrew , Pacey Verity , Poon Myra , Munns Craig

Objective: The potential for clinical trials to impact patient care may be limited if the outcomes reported vary by trial and lack direct relevance to patients. We aimed to systematically assess the scope and consistency of outcomes reported in randomised trials of interventions for children with osteogenesis imperfecta.Methods: We systematically searched for all published and unpublished randomised trials of interventions for children with osteogenesis ...

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ba0007p200 | (1) | ICCBH2019

Whole body vibration training for children and adolescents with congenital myopathy

Hutchence Meghan , Pacey Verity , North Kathryn , Clarke Nigel , Rose Kristy , Biggin Andrew , Briody Julie , Munns Craig

Objectives: To evaluate the effect of 24 weeks of weight bearing vibration therapy (WBVT) on muscle strength, motor function and bone health in children with congenital myopathies.Methods: A prospective pilot study incorporating a six month observational period followed by 6 months home-based WBVT (Galileo® Pro) was undertaken. Ambulant children with congenital myopathies aged 416 years were eligible for inclusion. Participants were assessed a...

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ba0007p201 | (1) | ICCBH2019

Juvenile dermatomyositis (JDM) and hypoparathyroidism (HP) in an adolescent girl

Miller Jennifer , Zimmerman Donald

Background: JDM is a systemic autoimmune inflammatory myopathy consisting of symmetric proximal muscle weakness, heliotrope and/or malar rash, Gottrons papules, nailfold capillary changes, myalgias, arthralgias, dysphonia, dysphagia, fever, anorexia, and calcinosis. Hypoparathyroidism can present with signs of hypocalcemia (numbness, tingling, bronchospasm, seizure, or tetany). Causes of HP include postoperative, autoimmune (isolated or in autoimmune polyglandular syndro...

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ba0007p202 | (1) | ICCBH2019

Vibration therapy improves mobility and has no detrimental impact on bone health in adolescents with mild cerebral palsy independent of daily protocol duration (9 minutes/day vs. 15 minutes/day)

Gusso Silmara , Mahadevan Renuka , Derraik Jose , Cutfield Wayne , Hofman Paul

Adolescents with cerebral palsy (CP) have altered muscle tone and reduced bone mass, which can lead to impaired mobility and function increasing their risk for osteopenia in later life. OBJECTIVES: We evaluated the efficacy of two side-alternating vibration therapy (VT) protocols (9 minutes/day versus 15 minutes/day) over a 20-week program on mobility and bone health in adolescents with mild CP. METHODS: Sixteen participants (12.4±0.9 years; 10 males) with mild cerebral p...

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ba0007p203 | (1) | ICCBH2019

Side-alternating vibration training improves mobility and has no detrimental impact on bone health in young children with mild-moderate cerebral palsy

Gusso Silmara , Mahadevan Renuka , Cutfield Wayne , Hofman Paul

Children with cerebral palsy have altered muscle tone and reduced bone mass, which can lead to impaired mobility and function increasing their risk for osteopenia in later life.Objectives: We aimed to evaluate the impact of 20 weeks of side-alternating vibration therapy on muscle and bone health in children with mild-moderate cerebral palsy. METHODS: Twelve participants (7.2±0.5 years; 6 females) were recruited to perform vibration therapy on a Gali...

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ba0007p204 | (1) | ICCBH2019

A qualitative analysis of the burden-of-illness associated with X-linked hypophosphataemia (XLH) in children and adolescents

Ferizovic Nermina , Mak Catherine , Marshall Jade , Shaw Nick , Mughal Zulf

Objectives: XLH is a rare, genetic, inherited disorder characterised by low blood phosphate which leads to inadequate mineralisation of bone, resulting in a spectrum of skeletal and functional muscle abnormalities, abnormal tooth development, physical and functional impairments. Treatment with conventional therapy places a significant burden on patients and families; it can require complex treatment dosage schedules, is often poorly tolerated, and can be associated with seriou...

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ba0007p205 | (1) | ICCBH2019

Bone mineral density in surgical hemivertebrae treatment in a prematurely born child − a case study

Vukliš Dragana , Krasnik Rastislava , Mikov Aleksandra , Demeši Drljan Čila , Zvekić Svorcan Jelena , Lačokova Krasnikova Jarmila

Introduction: Presence of osteosynthetic material in the spinal region may result in decreased musculoskeletal activity in certain spinal column segments, leading to vertebral bone mineral density changes.Case study: The case involves a 12-year-old girl who was born prematurely, who complained of experiencing lower back pain after performing forward roll in the physical education class. The patient was born at 32 weeks of gestation by pelvic presentation...

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ba0007p206 | (1) | ICCBH2019

Robot-assisted exercises in children with cerebral palsy – a case study

Mikov Aleksandra , Vukliš Dragana , Borovac Branislav , Gnjatović Milan , Tasevski Jovica , Krasnik Rastislava

Introduction: Rehabilitation therapy in children with cerebral palsy is a continuous process spanning several years and necessitating good cooperation between the child and all team members.Case study: The case involves 11-year-old girl, diagnosed with cerebral palsy GMFCS Level II of diplegic form. She can walk with support, but her stability and balance is compromised. Instability in seated position is also present. The patient underwent rehabilitation...

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ba0007p207 | (1) | ICCBH2019

Group exercises aimed at poor body posture correction assisted by humanoid robot – A case study

Mikov Aleksandra , Vukliš Dragana , Borovac Branislav , Gnjatović Milan , Tasevski Jovica , Krasnik Rastislava

Introduction: Insufficient physical activity may lead to poor body posture, especially during periods of rapid growth and development. As teenagers tend to find exercising boring and are unlikely to perform prescribed exercises at home, parental oversight and guidance is required.Case study: The reported case pertains to the program of corrective symmetric exercises conducted at the Institute of Child and Youth Health Care of Vojvodina, Novi Sad, involvi...

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ba0007p208 | (1) | ICCBH2019

Motor developmental outcomes in 2 babies with very severe osteogenesis imperfecta (type II)

Sweeney Claire , O'Sullivan Lizzie , Sahota Jaskiran , Saraff Vrinda , Shaw Nick

Introduction: Although previously babies with genetic type II Osteogenesis Imperfecta (OI) would not have expected to survive, they are now surviving beyond the neonatal period. We describe two such children who have survived beyond infancy.Aim & methods: To identify differences in motor developmental progress between a typical severe (type III) OI child vs two Type II OI children and suggest possible causes. Medical, nursing and therapy (physiothera...

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ba0007p209 | (1) | ICCBH2019

Persistently low trabecular bone mineral density and normal bone strength at the radius over 3 years after simultaneous pancreas kidney transplantation

Soucek Ondrej , Sumnik Zdenek , Kratochvilova Simona , Brunova Jana

Objectives: Simultaneous pancreas kidney transplantation (SPKT) is a standard treatment option for adults with long-lasting (usually adolescence onset) type 1 diabetes (T1D) and concurrent renal failure. Despite the need for life-long immunosuppressive therapy the patients achieve better glycemic control, normalized renal function and an improved quality of life. Whether metabolic improvement is also reflected in the skeleton is not yet clear.Methods: Pa...

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ba0007p210 | (1) | ICCBH2019

Premature physeal closure following 13 -cis - retinoic acid administration in neuroblastoma

Vasanwala Rashida Farhad

Background: Isotretinoin has demonstrated efficacy in a wide range of disorders. The beneficial effects of the drug, however, are limited by its adverse impact on the bone. Children exposed to high doses are at risk for premature epiphyseal closure, while adults on long-term therapy have an increased tendency to develop hyperostosis and other changes of the bone. Presenting feature and Clinical management A 9-month-old infant presented with vomiting and distended abdomen due t...

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ba0007p211 | (1) | ICCBH2019

Value of osteogenesis imperfecta clinical nurse specialists to families and consultants across five UK centres

Heathfield Mark , Tucker Ian , Sahota Jaskiran , Rayner Lauren , Greenacre Gemma

Objectives: To ascertain if parents and consultants at secondary care level hospitals felt there were areas that the Clinical Nurse Specialists (CNS), working with children and families with Osteogenesis Imperfecta (OI) could improve upon within their service, and to gain feedback on the current service provided.Methods: A SurveyMonkey© questionnaire was created through the audit team at Great Ormond Street Hospital and the Paediatric Ost...

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ba0007p212 | (1) | ICCBH2019

Genetic loss of heparanase does not inhibit osteochondromas in Ext1 and Ext2 double heterozygous hereditary multiple osteochondroma mouse model

Nannuru Kalyan , Jimenez Johanna , Brydges Susannah , Murphy Andrew , Economides Aris , Hatsell Sarah

Hereditary multiple osteochondromas (HMO) is an autosomal dominant rare genetic disorder due to LOF heterozygous mutations in EXT1 or EXT2 genes. HMO is an unmet medical condition where patients often requiring multiple surgeries. HMO is characterized by painful cartilaginous capped bony outgrowths at the growth plate (GP) regions of long bones, ribs and other skeletal elements. The molecular mechanism by which these mutations lead to disease is unknown. Mutations in EXT1 and ...

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ba0007p213 | (1) | ICCBH2019

Evaluating a therapy-led school and nursery outreach service for children with Osteogenesis Imperfecta

Bultitude Alex , Hupin Emilie , DeVile Catherine

Objective: Osteogenesis Imperfecta (OI) is most commonly caused by a defect in the genes which produce type 1 collagen. Features of OI include easy fracturing, short stature, hypermobility, weakness and fatigue. Our experience is that including a child with OI within a school or nursery environment can cause anxiety for both carers and staff. Questions often arise regarding how to promote participation whilst maintaining a childs safety. Keeping up with the curriculum ca...

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ba0007p214 | (1) | ICCBH2019

Assessment of multidisciplinary care of children with osteogenesis imperfecta at The Royal Manchester Children's Hospital

Galloway Paula , Nixon Anna , Rayner Lauren , Panchbhaya Nicola , Collins Helen , Skae Mars , Mughal Zulf , Padidela Raja

Dedicated occupational therapy and physiotherapy service for children and families with Osteogenesis Imperfecta (OI) at the Royal Manchester Childrens Hospital were set up in September 2017 to provide multidisciplinary management.Objectives: The aim is to assess if the newly established specialist paediatric occupational therapy and physiotherapy service is meeting the needs of the patients and their families.Method: A paper ...

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ba0007p215 | (1) | ICCBH2019

Evaluating the natural history of subcutaneous fat necrosis

Lautatzis Maria-Elena , Harrington Jennifer

Background: Subcutaneous fat necrosis (SCFN) of the newborn is an uncommon condition most commonly seen in term infants who have experienced perinatal stress presenting as nodules or plaques on the face, back or upper extremities. The associated complication of hypercalcemia is thought to be secondary to elevated 1,25-OH vitamin D from increased expression of 1-alpha hydroxylase from inflammatory granulomatous cells. However the natural history of SCFN, associated hypercalcemi...

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ba0007p216 | (1) | ICCBH2019

Dual diagnosis of autism and osteogenesis imperfecta: Case examples to illustrate the implications of dual diagnosis for enhanced outcomes for child and family

Jones Rebecca , Seasman Alison , Marr Caroline , Bishop Nicholas , Arundel Paul , Balasubramanian Meena , Team Metabolic Bone

Background: A minority of children with Osteogenesis Imperfecta (OI) seen within the Sheffield National Severe, Complex and Atypical Service (SCAOI) were also identified as showing symptoms consistent with an Autism Spectrum Disorder (ASD) (Balasubramanian et al. 2018). Diagnosis of ASD in conjunction with OI may be delayed due to presenting problems being inappropriately attributed to OI resulting in specialised ASD input not being received by children.<p class="...

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ba0007p217 | (1) | ICCBH2019

Abstract withdrawn....

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ba0007p218 | (1) | ICCBH2019

Hypercalcemia and parathyroid hormone-related peptide expression in a 3 months old boy with Colon Hemangioendothelioma

Maury Kelly , Martin Maria Julia , Figueroa Veronica , Yogui Analia , Gentili Claudia , Brunetto Oscar

Introduction: Epithelioid hemangioendothelioma (HEE) is a tumor of vascular origin, infrequent in the pediatric age and even more infrequent at intestinal level. To our knowledge, there are no previous reports of pediatric patients with malignant humoral hypercalcemia associated with this tumor. Humoral mechanism is seen more often in lung, uterine cérvix, skin and esophagus tumors. The presence of hypercalcemia appears to be an ominous prognostic sign.<p class="abste...

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ba0007p219 | (1) | ICCBH2019

Comparison of cell separation methods, using relative expression of specific growth plate zone markers in a pig model

Javanmardi Alireza , Raimann Adalbert , Egerbacher Monika , Sagmeister Susanne , Gleiss Andreas , Haeusler Gabriele

Objective: Linear growth is achieved by enchondral ossification in epiphyseal growth plates (GP) of long bones. These highly organized cartilaginous tissues contain chondrocytes of all differentiational stages classified in 35 specific zones. Due to their discrete characteristics, distinct analysis of each zone is essential in basic GP research. While the efficiency of zonal separation is therefore highly influencing on study results, comparative data on commonly used me...

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ba0007p220 | (1) | ICCBH2019

New perspectives in diagnosis and management of optic neuropathy in fibrous dysplasia: utility of optical coherence tomography and computed tomography measurements

Pan Kristen , FitzGibbon Edmond , Lee Janice , Collins Michael , Boyce Alison

Objectives: Optic neuropathy (ON) is a critical complication of fibrous dysplasia (FD). Early surgical decompression can prevent blindness; however, prophylactic intervention may cause blindness from intra-operative nerve damage. There is therefore a critical need to develop diagnostic tests for accurate and early detection of ON in patients with FD. Currently used methodologies, including radiographic evaluation of optic canal size and optic nerve length, are suboptimal and c...

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ba0007p221 | (1) | ICCBH2019

Speech and hearing impairment and respiratory complications in a large cohort of patients with Achondroplasia

Cocca Alessandra , Irving Melita , Gringras Paul , Turcu Simona , Cheung Moira S

Objectives: Respiratory and Ear, Nose and Throat (ENT) complications are commonly reported in children with achondroplasia but little data is available regarding prevalence and outcome. In an unselected cohort of children with achondroplasia, we studied the prevalence of:Abnormal cardiorespiratory sleep studiesSpeech and hearing impairment</ce:p...

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ba0007p222 | (1) | ICCBH2019

Long-term clinical outcome in chronic recurrent multifocal osteomyelitis (CRMO): the Leiden cohort

Ramautar Ashna IE , Hamdy Neveen AT , Hissink-Muller Petra CE , Cate Rebecca ten , Appelman-Dijkstra Natasha M

Objectives: To characterize clinical features and long-term outcome of CRMO, a rare inflammatory bone disease of childhood and adolescence, which forms part of the spectrum of chronic non-bacterial osteomyelitis (CNO).Methods: We studied 33 patients with an established diagnosis of CRMO followed at the Centre for Bone Quality of the Leiden University Medical Center from 1994 to 2018. Demographic and clinical data were collected at presentation and last f...

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ba0007p223 | (1) | ICCBH2019

A preliminary data of a prospective study on Iranian patients with osteogenesis imperfecta

Hoseinbeyki Moslem , Moradifard Shirin , Mirkhani Fatemeh , Ehsani Parastoo , Saghiri Reza , Karimipoor Morteza , Alaei Mohammareza , Ebrahimi-Rad Mina

Objectives: Osteogenesis Imperfecta (OI), is a group of rare, heritable disorder of bone and connective tissue. The pathogenicity of OI arises from the mutations in about 17 different genes, involved in collagen type 1 synthesis, processing, post-translational modification, folding, cross-linking, bone mineralization, and osteoblast differentiation. Based on Sillence classification, there are four types of OI; Type I (mild, non-deforming), Type II (perinatal lethal), Type III ...

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ba0007p224 | (1) | ICCBH2019

A teenager with recurrent fractures and multiple bone lesions: a diagnostic challenge

Seneviratne Sumudu Nimali , Kuruppu Piumi

Background: Ollier disease is a rare sporadic disorder where enchondromas develop close to the growth plate cartilage. Prevalence is around 1 in 100 000. Multiple enchondromas usually develop in childhood. Persons with Ollier disease are prone to pathological fractures. The disease carries a high risk of skeletal, visceral and brain malignancyPresenting problem: A 14-year-old boy presented with multiple fractures following trivial trauma. He first presen...

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ba0007p225 | (1) | ICCBH2019

A short girl with severe scoliosis and osteoporosis

Seneviratne Sumudu Nimali , Kuruppu Piumi

Background: Primary childhood osteoporosis is rare. We report a 9-year-old Sri Lankan girl with severe failure to thrive, scoliosis and low bone mineral density, with no apparent diagnosis.Presenting problem: A 9-year-old girl was referred for evaluation of short stature and scoliosis. She is the third living child of healthy non-consanguineous parents. She was born at term with low birth-weight (1.8 kg −2.9S.D.), birth length (43 cm...

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ba0007p226 | (1) | ICCBH2019

The experience of canakinumab in 2 patients with primary tumor (tumoral) calcinosis

Kostik M , Petukhova V , Pigareva T , Likhacheva T , Idrisova R , Snegireva L , Krasnogorskaya O , Suspisin E

Background: Primary tumoral calcinosis is an orphan disease. The data about the incidence of this disease, as well as clinical recommendations for treatment are not presented in the literature.Presenting problem: Two patients 11.5 years old boy and 8 years old girl with primary tumoral calcinosis had multiple foci of the subcutaneous calcification, walking impossibility, wheel-chair condition, fatigue, high fever and equinus deformity of the left ...

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