(1) | 0006 | ICCBH2017 | 8th International Conference on Children's Bone Health

ba0006p001 | (1) | ICCBH2017

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ba0006p002 | (1) | ICCBH2017

A 3-year longitudinal study of skeletal effects and growth in children after kidney transplantation

Swolin-Eide Diana , Hansson Sverker , Magnusson Per

Objectives: Children and adolescents with chronic kidney disease (CKD) are at risk of developing CKD-mineral bone disorder (CKD-MBD). This study was designed to follow Swedish pediatric patients prospectively for 3 years after kidney transplantation regarding growth and skeletal development.Methods: The study group comprised 13 patients (4 females), 415 years of age. Growth, bone mineral density (BMD) and markers of bone and mineral metabolism were...

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ba0006p003 | (1) | ICCBH2017

Abstract withdrawn....

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ba0006p004 | (1) | ICCBH2017

Bone mass tracks into teenage years

Ronne Maria , Heideman Malene , Schou Anders , Laursen Jens Ole , Wedderkopp Niels , Husby Steffen , Molgaard Christian

Objectives: Bone mass development in childhood and adolescence is crucial for peak bone mass (PBM) and low PBM may lead to osteoporosis later in life. The stability of bone mineral status through childhood and adolescence is known as tracking. The objective of this study is to determine the degree of tracking according to bone mass from pre-puberty into puberty in healthy Danish children.Methods: 190 healthy Danish children (97 boys) with mean age 9.25 y...

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ba0006p005 | (1) | ICCBH2017

Muscular fitness, bone mineral density and hip geometry in young males: the PRO-BONE study

Ubago-Guisado Esther , Vlachopoulos Dimitris , de Moraes Augusto Cesar , Torres-Costoso Ana , Wilkinson Kelly , Metcalf Brad , Sanchez-Sanchez Javier , Gallardo Leonor , Gracia-Marco Luis

Objective: The main aim was to evaluate associations between muscular fitness indices and bone outcomes, including hip geometry estimates in young males.Methods: One hundred twenty one males (13.1±0.1 years) were included: 41 swimmers, 37 footballers, 29 cyclists and 14 non-athletes. Lean mass, areal bone mineral density (aBMD) and hip structural estimates were measured using dual-energy X-ray absorptiometry. Relationships of physical fitness tests ...

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ba0006p006 | (1) | ICCBH2017

Bone density and body composition in post-pubertal adolescents treated with GnRH analogues in a gender identity development service

Tseretopoulou Xanthippi , Amin Nadia , Mushtaq Talat

Objectives: Gender Identity Disorder (GID) occurs when a persons gender identity differs from their biological sex, causing distress. GID presenting in childhood can dissipate at puberty. If it persists, they may progress to physical interventions. This involves the use of a GnRH analogue (GnRHa) for one year followed by cross sex hormones.Methods: As part of the clinical assessments, adolescents had body composition measurements and annual bone de...

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ba0006p007 | (1) | ICCBH2017

Effects of a 8-month physical activity and nutrition-induced weight loss program on bone health of obese adolescents.

Chaplais Elodie , Naughton Geraldine , Greene David , Duclos Martine , Masurier Julie , Dutheil Frederic , Thivel David , Courteix Daniel

Objective: This work investigated the changes of bone hip structural parameters in obese adolescents enrolled in a successful weight loss program.Methods: Thirty-one obese adolescents (age 13.61±1.27) enrolled in a 8-month weight loss program combining physical activity and nutrition were compared with normal-weight (NW) matched peers (age 15.9±0.43). Investigations were performed at baseline and 8 months. Bone geometric and strength indices we...

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ba0006p008 | (1) | ICCBH2017

Cardiorespiratory fitness, bone mineral density and hip geometry in young males: the PRO-BONE study

Ubago-Guisado Esther , Vlachopoulos Dimitris , de Moraes Augusto Cesar , Torres-Costoso Ana , Wilkinson Kelly , Metcalf Brad , Sanchez-Sanchez Javier , Gallardo Leonor , Gracia-Marco Luis

Objective: The main aim was to evaluate associations between cardiorespiratory fitness and bone outcomes, including hip geometry estimates in young males.Methods: One hundred twenty one males (13.1±0.1 years) were included: 41 swimmers, 37 footballers, 29 cyclists and 14 non-athletes. Lean mass, areal bone mineral density (aBMD) and hip structural estimates were measured using dual-energy X-ray absorptiometry. Relationships of physical fitness test ...

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ba0006p009 | (1) | ICCBH2017

Sexual dimorphism in cortical bone morphology during adolescent growth in Chinese

Cheuk Ka-Yee , Wang Xiaofang , Yu Fiona W P , Tam Elisa M S , Ng Bobby K W , Ghasem-Zadeh Ali , Zebaze Roger , Seeman Ego , Cheng Jack C Y , Lam Tsz-Ping

Objective: Previous study in Hong Kong reported boy-to-girl ratio of limb fracture was 5.5:1 in the adolescent group. Chinese children have increased risk for forearm fracture during puberty. This study aimed to investigate cortical growth in healthy Chinese adolescents during pubertal growth.Methods: 214 boys and 219 girls aged between 7 and 17 years old with no bone diseases were recruited. Maturity was assessed by self-reported Tanner staging. Images ...

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ba0006p010 | (1) | ICCBH2017

Transient hyperphosphatasemia in a child with nephrolithiasis And history of severe prematurity

Kutilek Stepan , Formanova Daniela , Senkerik Marian , Skalova Sylva , Markova Daniela , Langer Jan

Background: Transient hyperphosphatasemia of infancy and early childhood (THI) is a benign, usually accidentally detected condition characterized by transiently increased activity of serum alkaline phosphatase (S-ALP), its bone or liver isoform, in children under five years of age, without signs of metabolic bone disease or hepatopathy. When encountered in a child with either chronic bone, liver or kidney disease, THI might concern the physician. We present a patient with urol...

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ba0006p011 | (1) | ICCBH2017

Neonatal hypocalcemia – transient neonatal pseudohypoparathyroidism

Kutilek Stepan , Vracovska Martina , Pikner Richard , Fejfarkova Zlatka

Background: Neonatal hypocalcemia is defined as S-Ca <2 mmol/l in fullterm newborns and <1.75 mmol/l in preterm newborns. Neonatal hypocalcemia is either early onset (<3 days of age) or late onset (>3 days of age). Newborns with hypocalcemia are often asymptomatic, but mays present with hypotonia, apnea, poor feeding, jitteriness, seizures, cardiac failure. Signs of hypocalcemia rarely occur unless S-Ca drops below 1.75 mmol/l.Case presen...

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ba0006p012 | (1) | ICCBH2017

Determinants of bone outcomes in adolescent athletes at baseline: The PRO-BONE study

Gracia-Marco Luis , Vlachopoulos Dimitris , Ubago-Guisado Esther , Barker Alan R , Fatouros Ioannis G , Avlotini Alexandra , Knapp Karen K , Moreno Luis A , Williams Craig A

Objectives: The determinants of areal bone mineral density (aBMD) and hip geometry estimates in adolescent athletes are poorly understood. This study aimed to identify the determinants of aBMD and hip geometry estimates in adolescent male athletes.Methods: One hundred twenty one males (13.1±0.1 years) were measured: 41 swimmers, 37 footballers, 29 cyclists and 14 controls. Dual energy X-ray absorptiometry (DXA) measured aBMD at lumbar spine, femoral...

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ba0006p013 | (1) | ICCBH2017

Longitudinal evaluation of bone mass, geometry and metabolism in adolescent male athletes. The PRO-BONE study

Swolin-Eide Diana , Hansson Sverker , Magnusson Per , Ronne Maria , Heideman Malene , Schou Anders , Laursen Jens Ole , Wedderkopp Niels , Husby Steffen , Molgaard Christian , Ubago-Guisado Esther , Vlachopoulos Dimitris , de Moraes Augusto Cesar , Torres-Costoso Ana , Wilkinson Kelly , Metcalf Brad , Sanchez-Sanchez Javier , Gallardo Leonor , Gracia-Marco Luis Tseretopoulou Xanthippi , Amin Nadia , Mushtaq Talat , Chaplais Elodie , Naughton Geraldine , Greene David , Duclos Martine , Masurier Julie , Dutheil Frederic , Thivel David , Courteix Daniel , Ubago-Guisado Esther , Vlachopoulos Dimitris , de Moraes Augusto Cesar , Torres-Costoso Ana , Wilkinson Kelly , Metcalf Brad , Sanchez-Sanchez Javier , Gallardo Leonor , Gracia-Marco Luis Cheuk Ka-Yee , Wang Xiaofang , Yu Fiona W P , Tam Elisa M S , Ng Bobby K W , Ghasem-Zadeh Ali , Zebaze Roger , Seeman Ego , Cheng Jack C Y , Lam Tsz-Ping , Kutilek Stepan , Formanova Daniela , Senkerik Marian , Skalova Sylva , Markova Daniela , Langer Jan , Kutilek Stepan , Vracovska Martina , Pikner Richard , Fejfarkova Zlatka , Gracia-Marco Luis Vlachopoulos Dimitris , Ubago-Guisado Esther , Barker Alan R , Fatouros Ioannis G , Avlotini Alexandra , Knapp Karen K , Moreno Luis A , Williams Craig A , Vlachopoulos Dimitris , Barker Alan R , Williams Craig A , Ubago-Guisado Esther , Ortega Francisco B , Ruiz Jonathan R , Moreno Luis A , Fatouros Ioannis G , Avloniti Alexandra , Gracia-Marco Luis

Objectives: Cross-sectional studies show that exercise may have positive effects on bone outcomes in youth. However, there is no evidence from longitudinal studies, which type of sports can induce improvements in bone acquisition in adolescent athletes. Therefore, this study aimed to investigate the longitudinal differences in bone acquisition and bone metabolism between adolescent males participating in osteogenic (football) and non-osteogenic (swimming, cycling) sports compa...

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ba0006p014 | (1) | ICCBH2017

Longitudinal changes in bone mineral content and bone stiffness in adolescent male athletes: The PRO-BONE study

Vlachopoulos Dimitris , Barker Alan R , Williams Craig A , Ubago-Guisado Esther , Ortega Francisco B , Ruiz Jonathan R , Moreno Luis A , Fatouros Ioannis G , Avloniti Alexandra , Gracia-Marco Luis Vlachopoulos Dimitris , Barker Alan R , Williams Craig A , Ubago-Guisado Esther , Ramirez-Velez Robinson , Garcia-Hermoso Antonio , Pinero Jose Castro , Ortega Francisco B , Ruiz Jonatan R , Moreno Luis A , Gracia-Marco Luis

Objectives: Bone development can be enhanced by exercise during growth, but not all types of exercise may be beneficial. Weight bearing and non-weight bearing sports have different effects on bone outcomes during adolescence. However, there is no longitudinal evidence comparing the effects of popular sports in the UK on bone acquisition in adolescent males.Methods: In the present study 116 adolescent males (13.1±0.1 years: 37 footballers, 37 swimmer...

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ba0006p015 | (1) | ICCBH2017

Structural geometry of bones is prominently associated with risk of fracture in children

Medina-Gomez Carolina , Grgic Olja , Shevroja Enisa , Trajanoska Katerina , Uitterlinden Andre G , Jaddoe Vincent W , Beck Tom J , Rivadeneira Fernando

Background: Low total body BMD (TB-BMD) is an established risk factor for fractures in healthy children. However, bone strength depends not only on bone mass and density, but also on the structural geometry of bones. Hip structural analysis (HSA) is a technique applied on hip DXA scans to calculate several bone geometry parameters. The aim of our study was to evaluate other bone geometrical parameters that can constitute determinants of fracture risk. Specifically, we examined...

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ba0006p016 | (1) | ICCBH2017

Necrotizing enterocolitis during the neonatal period is related to lower bone mass at 5 years of age, compared to matched controls

Magnusson Amanda , Swolin-Eide Diana , Elfvin Anders

Objectives: Necrotizing enterocolitis (NEC) is a severe gastrointestinal disease, mainly affecting preterm infants. NEC-survivors may have short or dysfunctional bowel with malnutrition as a result. Osteopenia of prematurity is well described among preterm infants. To the best of our knowledge there are no studies that follow preterm NEC-survivors to 5 years of age, regarding growth and bone mass. The aim was to study whether children diagnosed with NEC during their neonatal p...

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ba0006p017 | (1) | ICCBH2017

Bone mineral density in children and adolescents with neurofibromatosis type I: mineralization during growth and pubertal development

Rodari Giulia , Scuvera Giulietta , Ulivieri Fabio M , Menni Francesca , Saletti Veronica , Esposito Silvia , Profka Eriselda , Bergamaschi Silvia , Vainicher Cristina Eller , Arosio Maura , Esposito Susanna , Giavoli Claudia

Objectives: The present study aims at evaluating bone mineral density (BMD) in a population of children with Neurofibromatosis type I (NF1), with particular focus on changes occurring during growth and pubertal development, trying to understand the magnitude and timing of onset of BMD impairment in this multisystemic and progressive disease, the latter poorly defined so far.Methods: Bone metabolic markers (total calcium, phosphorus, bone alkaline phospha...

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ba0006p018 | (1) | ICCBH2017

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ba0006p019 | (1) | ICCBH2017

Zebrafish as model organism for craniosynostosis

Bluemel Rabea , Klopocki Eva , Liedtke Daniel

Objectives: Craniosynostosis is a skeletal birth defect, resulting in premature fusion of cranial sutures. The patency of the sutures is essential to enable the growth of the skull in compliance to the developing brain. Mutations in TWIST1 and TCF12 have been identified in patients with Saethre-Chotzen syndrome, which is typically associated with coronal synostosis. Studies in mouse models suggest that the quantity of TCF12-TWIST1 heterodimers is one critical...

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ba0006p020 | (1) | ICCBH2017

Age at onset of walking affects bone mineral content in early childhood

Valkama Saara , Viljakainen Heli , Holmlund-Suila Elisa , Rosendahl Jenni , Hauta-alus Helena , Enlund-Cerullo Maria , Helve Otto , Andersson Sture , Makitie Outi

Objectives: The aim of this study was to evaluate the association between the age at onset of walking and bone mineral content (BMC) in healthy 2-year-old children participating in the Vitamin D in Infants Trial (VIDI).Methods: Altogether 253 children (120 girls, 133 boys) with a daily vitamin D3 intake of 10 μg and a sufficient serum 25-hydroxyvitamin D (25-OHD) concentration (>50 nmol/l) were included in the analysis. BMC was measur...

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ba0006p021 | (1) | ICCBH2017

Sexual dimorphism in bone size, density, micro-architecture and strength is site-specific and manifested in favour of boys already in childhood

Kontulainen Saija , Bjorkman Kelsey , Kawalilak Chantal , Duff Whitney , Vatanparast Hassanali , Johnston J.D.

Sex-differences in bone strength manifest at late puberty likely due to sex-specific hormonal stimulus to bone development. Comparisons of bone structural properties between sexes in years preceding the pubertal growth are lacking. Our objective was to assess sex-differences in bone strength, size, density and micro-architecture in childhood. We scanned distal and shaft sites of the radius and tibia from 85 girls and 75 boys (mean age 10.8, S.D. 1.8 years) using...

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ba0006p022 | (1) | ICCBH2017

Bone densitometric parameters and body composition in preterm and term infants at the age of forty weeks of gestational age

Di Iorgi Natascia , Diana Paola

Backgound: Limited data are available on body composition of preterm compared to born at term infants. The aim of our study was to compare bone mass, fat mass-FM and free fat mass-FFM in preterm and term infants at 40th weeks of gestational age (GA).Methods: Thirty-four preterm infants (14M, 20F) born at 31.0±2.2 weeks of GA (range 2636+3 weeks) and n=8 term neonates (4M, 4F) born at 39.7±1.0 weeks of GA underwent a to...

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ba0006p023 | (1) | ICCBH2017

Tracking differences in morphology and regulation between the spine and long bones in a pig model

Raimann Adalbert , Javanmardi Alireza , Egerbacher Monika , Haeusler Gabriele

Objectives: The skeleton is not a single functional unit but consists of different, well-organized and mineralized compartments with specific functions, developmental aspects and regulations. Differences in the regulation of spinal and long bone elongation are mirrored clinically by the age course in body proportions. Whereas growth plates (GPs) in long bones can easily be discriminated, vertebral GPs are part of the cartilaginous endplate, which typically shows important spec...

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ba0006p024 | (1) | ICCBH2017

Spondyloepiphyseal dysplasia: A rare cause of short stature

Vlachopapadopoulou Elpis , Dikaiakou Eirini , Panagiotopoulos Ioannis , Zambakides Christos , Anagnostou Elli , Papadakis Vassilios , Michalacos Stefanos

Background: Short stature is a very common reason for referral to a pediatric endocrinologist. Endocrine and non endocrine causes are involved. Short stature can be classified as symmetrical or non-symmetrical. Numerous monogenic causes of growth disorders have been identified.Presenting problem: To present two brothers with familial spondyloepiphyseal dysplasia presenting with short stature and very low growth velocity starting at the age of 8 years. Th...

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ba0006p025 | (1) | ICCBH2017

The impact of Haemophilia A on bone health

Doulgeraki Artemis , Xafaki P. , Pergantou H. , Athanasopoulou H. , Platokouki H.

Objectives: Haemophilia A (FVIII deficiency) is an X-linked disorder of haemostasis with bleeding tendency, mainly in joints and muscles. Recurrent haemarthroses, subsequent immobilization and avoidance of contact sports, may affect these patients skeletal health.Methods: Evaluation of bone health was performed in 51 children with Haemophilia A (severe: 41, all on prophylaxis treatment), mean age: 11.7±3.6 years. Dual-energy X-Ray absorptiomet...

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ba0006p026 | (1) | ICCBH2017

Own research experience of bone tissue metabolism in patients with the Ehlers-Danlos syndrome

Demyan Yuriy , Guk Iurii , Magomedov Oleksandr , Zyma Andrii , Cheverda Andrii , Polishchuk Tamara Kincha , Balacka Natalia

Purpose: To explore the features of bone metabolism and create a system of medical correction of violations in patients with Ehlers-Danlos syndrome.Materials and methods: Based on the analysis of the survey results of 12 patients with different types of EDS aged 3 to 10 years (males - 8 patients, female - 4 patients) who were treated in Institute of Orthopedics and Traumatology,National Academy of Medical Sciences, Kiev, Ukraine from 2005 to 2015 years. ...

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ba0006p027 | (1) | ICCBH2017

Sex and iron modify fibroblast growth factor 23 concentrations in 1-year-old children

Holmlund-Suila Elisa , Enlund-Cerullo Maria , Valkama Saara , Hauta-alus Helena , Rosendahl Jenni , Helve Otto , Viljakainen Heli , Andersson Sture , Makitie Outi

Objectives: The regulation of fibroblast growth factor 23 (FGF23) metabolism during infancy is inadequately characterized. We previously observed a distinct sex difference in intact FGF23 at 3 months of age. In this study we aimed to further examine the role of sex and iron status in FGF23 metabolism in 1-year-old children.Methods: This was a cross-sectional study including 731 1-year-old Caucasian children participating the Vitamin D intervention in inf...

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ba0006p028 | (1) | ICCBH2017

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ba0006p029 | (1) | ICCBH2017

Web-based surveys using Patient-Reported Outcome Measurement Information System (PROMIS) instruments allow documentation of important components of the disease experience among individuals with Osteogenesis Imperfecta

Tosi Laura , Floor Marianne , Holland Rosalie , Goerlich Cara , Hart Tracy , Cuthbertson David , Sutton V Reid , Krischer Jeffrey

Objectives: Two important goals of the Rare Diseases Clinical Research Network Brittle Bone Disorders Consortium (RDCRN BBD) are i) to perform collaborative clinical research in brittle bone disorders including a longitudinal observational study driven by genotypic association and ii) to explore use of the PROMIS tool to provide valid quality of life (QOL) measures in individuals with Osteogenesis Imperfecta (OI). This work has been motivated by the fact that all current outco...

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ba0006p030 | (1) | ICCBH2017

Outcomes of zoledronic acid use in paediatric conditions

Lim Angelina , Simm Peter , James Simon , Zacharin Margaret

Objectives: Intravenous bisphosphonates have been used in children for various primary and secondary bone fragility disorders for three decades but beyond osteogenesis imperfecta, there is very limited information published in relation to outcomes. We report the experience at the Royal Childrens Hospital (RCH), Melbourne using Zoledronic acid (ZA), describing outcomes based on the underlying condition for which treatment was given, with the aim of informing future protoc...

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ba0006p031 | (1) | ICCBH2017

Valproic acid induces Fanconi syndrome and reversible hypophosphataemic rickets via upregulation of fibroblast growth factor 23

Saraff Vrinda , Padidela Raja , Mushtaq Talat , Sakka Sophia , Mughal Zulf , Hogler Wolfgang

Background: Valproic Acid (VPA) is a commonly used antiepileptic drug in the management of childhood epilepsy. Renal dysfunction presenting as Fanconi syndrome (FS) is a rare side effect of VPA use. This can lead to renal tubular phosphate loss, resulting in hypophosphataemic rickets, low bone mass and fractures. We report 6 children with VPA induced FS from three tertiary paediatric metabolic bone centres across England.Presenting problem: P1: Global de...

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ba0006p032 | (1) | ICCBH2017

Bone health status in Indian children with type 1 diabetes as assessed by peripheral quantitative computer tomography (pQCT)

Mandlik Rubina , Ekbote Veena , Bhor Shital , Kajale Neha , Pawar Jwala , Narwade Shriram , Khadilkar Vaman , Chiplonkar Shashi , Padidela Raja , Mughal Zulf , Khadilkar Anuradha

Objective: Our earlier study using dual energy x-ray absorptiometry had shown that longer duration of type 1 diabetes (T1DM) in children was associated with small and slender bones. The objective of this study was to assess bone geometry in children and adolescents with T1DM using a pQCT.Methods: We studied 69 children (8.3 to 18.7 years of age, 29 boys) with T1DM. Anthropometry and biochemical assessments (glycosylated Hb (HbA1c), Vitamin D and PTH) wer...

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ba0006p033 | (1) | ICCBH2017

Nutritional status influence upon bone mineral density of children with cerebral palsy after reconstructive hip joint surgery

Kharchenko Svetlana , Popovtseva Anna , Grigoricheva Lyudmila , Lobanov Michael , Kozhevnikov Vadim

Objectives: Evaluate nutritional status influence upon bone mineral density (BMD) of children with CP diagnosis after reconstructive hip joint surgery.Methods: Eighteen children with CP diagnosis with III-V level Gross Motor Function Classification System took part in the research. All patients received reconstructive medical treatment in child traumatic-orthopedic unit of health center after reconstructive hip joint surgery. Anthropometric measurement c...

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ba0006p034 | (1) | ICCBH2017

Identification of bone remodelling alterations in Gorham-Stout disease

Rossi Michela , Battafarano Giulia , Buonuomo Paola Sabrina , Jenkner Alessandro , Rana Ippolita , De Vito Rita , Bartuli Andrea , Del Fattore Andrea

Objectives: Gorham-Stout disease (GSD) is a very rare disorder characterized by extensive angiomatous proliferation and progressive osteolysis without new bone formation. Only ~200 patients were reported. The quality of life is very poor since patients display pain, fractures, functional impairment and swelling of the affected regions. The ethiology of GSD is unknown. We aim to investigate the bone phenotype and to identify molecular and cellular defects in GSD patients.<p...

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ba0006p035 | (1) | ICCBH2017

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ba0006p036 | (1) | ICCBH2017

Decreased incidence of fracture after IV bisphosphonates in girls with Rett syndrome and severe bone fragility

Lambert Anne-Sophie , Rothenbuhler Anya , Charles Perrine , Celestin Elisabeth , Bahi-Buisson Nadia , Linglart Agnes

Background: Rett Syndrome (RS) is a disabling condition due to mutations in MECP2. Girls affected with RS are at risk of developing osteoporosis and fractures at a young age because of their lack of mobility and through a direct effect of MECP2 on bone mineralization. In these girls, bone fragility inflicts pain and may seriously impair the quality of life.Objective: To retrospectively assess the effect of IV bisphosphonates on fracture, bone mineral den...

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ba0006p037 | (1) | ICCBH2017

Early fragility fractures in Zellweger syndrome spectrum – peroxisome dysfunction affecting osteogenesis?

Nicholls Rachel , Pierre Germaine , Chronopoulou Effie , Smithson Sarah F , Offiah Amaka C , Barton John S , Burren Christine P

Background: Peroxisomal Biogenesis Disorders (PBD) is a group of rare metabolic diseases in which peroxisomal function is disrupted. PBD encompasses Zellweger Syndrome Spectrum (ZSS) disorders, which range in severity from classical ZS with severe neurological impairment and markedly reduced life expectancy to Refsum Disease presenting later in childhood. Recent fragility fractures in our ZSS patients in very early childhood prompted case series review.P...

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ba0006p038 | (1) | ICCBH2017

Hypophosphatasia associated with acute disseminated encephalomyelitis (ADEM): causal relationship or coincidence?

Jacobs Benjamin , Gall Angela , Peeva Daniela , Lacassagne Sandrine , Talwar Dinesh , Wakeling Emma L , Tenorio Jair , Mughal M Zulf

Background: Hypophosphatasia is generally regarded as a disease of bone and teeth. Lack of Tissue Non-Specific Alkaline Phosphatase (TNAP) leads to an accumulation of inorganic pyrophosphate and the Vitamin B6 metabolite pyridoxal 5′-phosphate (PLP), a reduction in pyridoxic acid (PA) and increased PLP/PA ratio. Vitamin B6 deficiency in the brain impairs synthesis of neurotransmitters, and is a well-recognised cause of neonatal seizures. We have found no previous reports...

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ba0006p039 | (1) | ICCBH2017

Cystinosin deficiency affects bone phenotype

Battafarano Giulia , Rossi Michela , Di Giovamberardino Gianna , Pastore Anna , Taranta Anna , Del Fattore Andrea

Objective: Cystinosis is a rare lysosomal storage disorder caused by loss-of-function mutations of the CTNS gene, encoding for cystinosin symporter that mediates cysteine efflux from lysosome. ~95% of cystinotic patients display nephropathic Fanconis syndrome, short stature, osteopenia and rickets. In this study we evaluated whether the absence of cystinosin primarily affects bone remodeling activity.Methods: We analyzed bone phen...

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ba0006p040 | (1) | ICCBH2017

Atypical femoral fractures in 2 children treated with bisphosphonates

Jacobs Benjamin , Brain Caroline , DeVile Catherine , Allgrove Jeremy , Peeva Daniela , Hashemi-Nejad Aresh , Mughal M Zulf

Background: Atypical Femur Fracture (AFF) has become widely reported as a complication of bisphosphonate therapy in adults since the first case report in 2005. A trend towards a similar pattern of fractures has been reported in children in Sheffield in 2012. A 13 year old boy was reported in 2014 with an AFF of the tibia but that fracture did not meet the standard diagnostic criteria of AFF. Last year a 16-year-old girl treated with pamidronate for idiopathic juven...

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ba0006p041 | (1) | ICCBH2017

A randomised double-blind placebo-controlled trial of vitamin D supplementation in juvenile-onset systemic lupus erythematosus: positive effect on trabecular microarchitecture using high resolution peripheral quantitative computed tomography

Paupitz Juliane , Lima Glauce , Aikawa Nadia , Alvarenga Jackeline , Pereira Rosa

Objectives: Vitamin D has an important effect on bone but there are no trials that directly address the boosting of serum levels of 25-hydroxyvitamin D (25OHD) in bone microarchitecture in Juvenile-onset Systemic Lupus patients (JoSLE). The aim of this study was to evaluate the effect of vitamin D supplementation on bone microarchitecture parameters using HR-pQCT in JoSLE patients.Methods: This study was a randomized double-blind placebo-controlled 24-we...

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ba0006p042 | (1) | ICCBH2017

Osteogenesis imperfecta type VI presenting as suspected physical abuse -- a report of two cases

Sithambaram Sivagamy , Bishop Nick , Shankar Lata , Offiah Amaka C , Pollitt Rebecca C , Balasubramanian Meena , Saggar Anand K , Arundel Paul

Background: Osteogenesis imperfecta (OI) type VI is a rare recessive disease that may present with long bone fractures in early childhood. Bone in this condition is particularly brittle; the resulting pattern of long bone fractures and lack of distinct radiographic findings can make the diagnosis less obvious than in other types of OI. We report 2 unrelated children who presented with long bone fractures and were suspected of having suffered physical abuse with removal of pare...

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ba0006p043 | (1) | ICCBH2017

Pseudohypoparathyroidism type IB: A cause of late hypocalcemia

Vlachopapadopoulou Elpis , Dikaiakou Eirini , Anagnostou Elli , Mackay Deborha , Tsolia Mariza , Michalacos Stefanos , Hanna Patrick , Linglart Agnes , Karavanaki Kyriaki

Background: Hypocalcemia presenting in adolescence is rare. Most common etiology is autoimmune hypoparathyroidism. Pseudohypoparathyroidism (PHP) is a rare group of disorders characterized by end-organ resistance to parathyroid hormone (PTH), and other hormones, such as TSH, with or without features of Albrights hereditary osteodystrophy.Case presentation: A 14-year-old boy presented complaining of fatigue and spontaneous carpal spasms in associati...

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ba0006p044 | (1) | ICCBH2017

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ba0006p045 | (1) | ICCBH2017

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ba0006p046 | (1) | ICCBH2017

A 16 years old follow up in one case of congenital multiple hormone deficiency: growth, sexual development and bone metabolism

Petrolini Chiara , Stagi Stefano , Rubino Chiara , Gioe Daniela , Spina Luisa La , Peluso Francesca , Monica Matteo Della , Martino Maurizio de

Background: Congenital multiple hormone deficiency (CMHD) is a rare condition caused by mutations in transcription factors involved in pituitary ontogenesis1. Incidence of mutations in POU1F1 gene in results between 3.8 and 7.7%2. POU1F1 gene mutations lead to somatolactotroph and thryotroph deficiencies. Brain MRI can be normal or shows pituitary hypoplasia without extrapituitary anomalies.Presenting problem: We describe the growth...

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ba0006p047 | (1) | ICCBH2017

Vitamin D status before and during treatment for childhood cancer

Latoch Eryk , Muszynska-Roslan Katarzyna , Osinska Milena , Pazik Anna , Krawczuk-Rybak Maryna

Recent studies suggest the link between low vitamin D levels and the prevalence of cardiovascular disease, diabetes, hypertension and a number of different types of cancer. Nowadays, vitamin D deficiency is recognized as a pandemic health problem and pediatric cancer patients may be even at higher risk than the healthy children. Children suffered from malignancy are especially exposed to its deficiency, because of the potential impact of the disease and its treatment. However,...

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ba0006p048 | (1) | ICCBH2017

A rare cause of rickets

Sakka Sophia , Uday Suma , Randell Tabitha , Davies Justin H , Arya Ved Bushan , Brain Caroline , Allgrove Jeremy , Hogler Wolfgang , Shaw Nick J

Background: The development of hypophosphataemic rickets in infants fed with the elemental formula (EF) Neocate® has been recently reported. We present seven cases of exclusively Neocate-fed babies who developed hypophosphataemic rickets.Presenting problem: Three patients (P1,3,4) had incidental findings of rickets on chest X-rays, two (P2,6) developed leg deformities and rickets was confirmed on X-rays, and two (P5,6) presented with femu...

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ba0006p049 | (1) | ICCBH2017

Difficulties in diagnostics and clinical classification of osteogenesis imperfecta in Poland

Rusinska Agnieszka , Michalus Izabela , Jakubowska-Pietkiewicz Elzbieta , Beska Karolina , Adamiecka Paulina , Chlebna-Sokol Danuta

Introduction: Osteogenesis imperfecta (OI) is a genetically determined bone dysplasia characterised predominantlyby recurrent fractures, reduced bone mineral density and some clinical features connected with colagenopathy. However, not all patients have exhibit all this signs, and in this situation diagnosis may be difficult.Aim: The aim of this work is to compare clinical symptoms of various types of osteogenesis imperfecta and to present diagnostic pro...

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ba0006p050 | (1) | ICCBH2017

The prevalence of fragility fractures in children with cerebral palsy in Greater Manchester, UK-a cross-sectional survey

Patel Ekta , Ferguson Anne , Alshryda Sattar , Mughal Zulf , Padidela Raja

Background: Cerebral Palsy (CP) is the most common physically disabling childhood motor disorder. Fractures in this group of children are common, however, prevalence and risk factors associated with fractures in children with CP in the UK is not known.Aims: The aims of this cross-sectional survey were 1) to determine the prevalence of fractures in children with moderate-to-severe CP in Greater Manchester 2) to determine the common sites of fracture and 3...

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ba0006p051 | (1) | ICCBH2017

Low bone density and fragility fractures in unbalanced translocation T(9;11)

Vai Silvia , Broggi Francesca , Bianchi Maria Luisa

Background: Trisomy 9p is a rare abnormality caused by duplication of the short arm of chromosome 9. Translocation t(9;11) is a rarer variant. Both anomalies are compatible with long survival. Clinical manifestations are very variable, and include short height, mental retardation, hypertelorism, strabismus, foot/hand anomalies, delayed bone maturation. Low bone mineral density (BMD) or fragility fractures have never been reported.Presenting prob...

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ba0006p052 | (1) | ICCBH2017

Hypophosphatasia - from symptom to diagnosis - case report

Michalus Izabela , Rusinska Agnieszka , Orzechowska Gabriela , Sokol Danuta Chlebna

Introduction: Hypophosphatasia is a rare genetic disease caused by a mutation in the tissue-nonspecific alkaline phosphatase gene. TNSALP gene is located on the short arm of chromosome 1 (1p36.1-34). Over 200 point mutations have been described for this gene so far. Hypophosphatasia is inherited in an autosomal recessive or dominant way, which is related to the severity of symptoms. Pathophysiology of this disease is associated with the impaired function of osteoblasts that do...

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ba0006p053 | (1) | ICCBH2017

Determinants of bone density in Duchenne muscular dystrophy

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

Objectives: Low bone mineral density (BMD) and increased frequency of peripheral and vertebral fractures have been reported in boys with Duchenne muscular dystrophy (DMD), but studies on the determinants of low BMD are still very few. We are currently carrying out a multicenter, prospective study aimed to identify the characteristics of DMD boys with a higher risk of bone loss and fractures.Methods: Forty-two DMD boys (mean age 9.9±3.3 years) underw...

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ba0006p054 | (1) | ICCBH2017

The influence of immune dysregulation on bone metabolism in children with inflammatory bowel disease: the potential for bone as a secondary lymphoid organ

Penman Gareth , Campbell David , Pockley A. Graham , Bishop Nicholas

The influence of immune dysregulation on bone metabolism in children with inflammatory bowel disease: the potential for bone as a secondary lymphoid organ.Background: Whilst their clinical relevance in terms of fracture may be questioned, systemic inflammatory disorders in children impacts on their bone metabolism and reduces bone mineral density. Similar observations in adults are in part explained by interactions between lymphocytes and osteoclasts via...

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ba0006p055 | (1) | ICCBH2017

Abstract withdrawn....

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ba0006p056 | (1) | ICCBH2017

Conservative management of metabolic derangements in osseous tissue among patients with vitamin d-dependent rickets type 2

Martsyniak Stepan , Kincha-Polishchuk Tamara

Objectives: To determine the influence of conservative management upon genetically-determined metabolic derangements in osseous tissue among patients with vitamin D-dependent rickets type 2.Methods: The conservative management of the 39 patients with rickets-like diseases involved 4 stages (tab1). 1st stage included complete examination of the patient referring determination of the calcium and phosphorus in blood and urine, calcidiol and calcitriol in bl...

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ba0006p057 | (1) | ICCBH2017

Zebrafish as a model for hypophosphatasia

Graser Stephanie , Liedtke Daniel , Geidner Barbara , Heppenstiel Yvonne , Jakob Franz , Klopocki Eva

Objectives: Hypophosphatasia (HPP) is a rare hereditary disease, leading to deficits in bone and tooth mineralization, muscular as well as neurological abnormalities due to decreased enzymatic activity of the tissue-nonspecific alkaline phosphatase (TNAP, encoded by the alpl gene). In this project, the zebrafish (Danio rerio) will be established as a new and valuable animal model for HPP research. Consequently, endogenous TNAP expression should be analyzed in different zebrafi...

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ba0006p058 | (1) | ICCBH2017

The relationship between maternal and child bone density in Nigerian children with and without nutritional rickets

Bommersbach Tanner , Fischer Philip , Pettifor John , Thacher Tom

Objective: To determine the relationship between maternal and child bone density in a cohort of mothers and their children with and without rickets.Methods: Using a case-control design without matching, areal forearm bone mineral density (aBMD) was measured in 52 and 135 Nigerian children with and without rickets, respectively, and their mothers. The metaphyseal site was located at the site of minimal bone density of the distal radius and ulna. The diaph...

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ba0006p059 | (1) | ICCBH2017

Retrospective evaluation of serum alkaline phosphatases (ALP) in Italian children referred to a tertiary children's hospital

Stagi Stefano , Rubino Chiara , Petrolini Chiara , Sandini Elena , Maggioli Chiara , Schiatti Roberto , de Martino Maurizio

Objectives: To evaluate the frequency of low serum alkaline phosphatase (ALP) activities in patients referred to a tertiary childrens hospital. Another item was to explore potentially missed diagnoses and to evaluate the role of laboratory screening for hypophosphatasia.Study design: A retrospective evaluation over an 6-year period (between December 2010 and December 2016) carried out to identify children and adolescents, referred to Anna Meyer Chi...

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ba0006p060 | (1) | ICCBH2017

Abstract withdrawn....

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ba0006p061 | (1) | ICCBH2017

Renal tubular acidosis with an elevated urinary β-2 microglobulin in a boy presenting with sporadic hypophosphataemic rickets and intellectual disability (Dent's Disease)

Brown Justin , Johnstone Lilian , Yeung Alison , Rodda Christine

Background: X linked hypophosphataemic rickets is the commonest cause of renal phosphate wasting, however sporadic cases may warrant additional investigations to exclude less common causes, as exemplified by our case.Presenting problem: A 3 year 7 month boy was referred for assessment and ongoing management of rickets and short stature (height less than 1st %.) He originally presented with leg bowing and waddling gait from the age of 12 months...

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ba0006p062 | (1) | ICCBH2017

Lysinuric protein intolerance presenting with short stature and osteoporosis

Karaguzel Gulay , Aydin Halil , Erginer Begum

Background: Lysinuric protein intolerance (LPI) is a rare autosomal recessive multisystemic metabolic disorder, caused by defective transport of cationic amino acids at the basolateral membrane of epithelial cells.Presenting problem: A 14-year-old boy was referred to our clinic for short stature. He was the second child of consanguineous healthy parents. He had previously suffered for 4 fractures occurred secondary to minimal trauma in the upper limbs. H...

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ba0006p063 | (1) | ICCBH2017

Effects of KRN23, a fully human anti-FGF23 monoclonal antibody, on functional outcomes in children with X-linked hypophosphatemia (XLH): results from a randomized, open-label Phase 2 study

Imel Erik , Carpenter Thomas , Linglart Agnes , Boot Annemieke , Hogler Wolfgang , Padidela Raja , van't Hoff William , Portale Anthony , Mao Meng , Skrinar Alison , San Martin Javier , Whyte Michael P

Objectives: In XLH, musculoskeletal outcomes of current treatment with oral phosphate (Pi)/active vitamin D are suboptimal for many patients. In a Phase 2, open-label study, we tested the hypothesis that KRN23 improves rickets and functional outcomes in XLH children.Methods: Fifty-two children with XLH (ages 512 years at baseline) received KRN23 subcutaneously biweekly (Q2W) or monthly (Q4W). At study entry, most participants had received oral Pi/a...

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ba0006p064 | (1) | ICCBH2017

Extensive periosteal new bone formation secondary to copper deficiency in a 2 year-old boy with arterial tortuosity syndrome

Bowden Sasigarn , Adler Brent , Shaikhkhalil Ala , Hor Kan , McBride Kim , Steingass Katherine

Background: Periosteal reaction can be a manifestation of various underlying medical conditions, including tumor, infection, trauma, metabolic or genetic diseases.Presenting problem: A 2 year-old male presented for evaluation of periosteal bone formation in symmetrical distribution of proximal humerus, radius, ulnar, femur, and clavicles, noted after having persistent fussiness, irritability and inability to bear weight and use arms for 3 weeks. He had a...

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ba0006p065 | (1) | ICCBH2017

A novel form of congenital rickets due to a recurrent gain of function mutation in CYP3A4

Rodda Christine P , Levine Michael A , Roizen Jeffrey D , Javaid Muhammad K , Ebeling Peter R , Nguyen Hanh , Dewez Peter , Shaw Nicholas J

Although Vitamin D deficiency is the most common form of rickets worldwide, when there is a failure to respond to cholecalciferol, inborn errors of vitamin D metabolism should be considered. We describe two unrelated individuals who presented with early onset rickets characterised by reduced serum levels of 25(OH)D and 1,25(OH)2D, and a deficient response to Vitamin D2/D3 and calcitriol. Case 1: A Caucasian Australian girl with non-consanguineous parents ...

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ba0006p066 | (1) | ICCBH2017

Unusual presentation of acquired hypophosphataemic rickets

Thandrayen Kebashni , Parbhoo Kiran , Moosa Fatima , Pettifor John

Background: Acquired hypophosphataemic rickets is an unusual presentation in children and usually consequent on renal tubular damage. One of the factors important in phosphate homeostasis is FGF23. Healthy individuals maintain normal phosphate homeostasis by coupling FGF23 production with proteolytic cleavage. Iron deficiency stimulates FGF23 transcription and is a novel mechanism of FGF23 elevation. We present two children who presented with iron deficiency anaemia and hypoph...

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ba0006p067 | (1) | ICCBH2017

Mid-gestation anomaly scan cannot be relied upon for screening for severe perinatal hypophosphatasia

Chinoy Amish , Iruloh Chibuike , Kerr Bronwyn , Yates Robert , Mughal Zulf , Padidela Raja

Background: Hypophosphatasia (HPP) is a disorder of bone mineralisation caused by deficiency of alkaline phosphatase (secondary to ALPL gene mutations), causing accumulation of inorganic pyrophosphate (PPi) thus inhibiting bone mineralisation. The perinatal form presents with severe manifestations at birth. Most severe skeletal manifestations are detectable by 20 weeks gestational age (GA) anomaly scan, and antenatal care within the UK practices routine detailed anoma...

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ba0006p068 | (1) | ICCBH2017

Craniosynostosis can occur in children with nutritional rickets

Forestier-Zhang L , Arundel P , Cross R Gilbey , Mughal M Z , Offiah A C , Cheung M S

Background: Severe vitamin D deficiency (VDD), is a common disorder, which has complications including rickets, hypocalcaemia, hypotonia, delayed development and cardiomyopathy. Although nutritional rickets associated craniosynostosis has been reported, there is little awareness of this or knowledge about its clinical course or severity. We present five cases of late onset craniosynostosis in association with nutritional rickets.Clinical presentation: Th...

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ba0006p069 | (1) | ICCBH2017

Multiple fractures that begun in utero in a pre-adolescent child with low ALP levels and nephrocalcinosis: clinical aproximation for the differential diagnosis of hypophosphatasia (HPP)

Fernandez Maria Isabel Gonzalez , Montesinos Berta Lopez , Marti Miguel , Calvo Inmaculada

Objectives: Differential diagnosis vs. Osteogenesis Imperfecta (OI).Methods: The parents were Moroccan origin, consanguineous. The patient is an 8 year old girl, who was visited for a first time in our hospital in October 2016, presenting a fracture of the left femur, with dramatic bone deformations, with important disability, unable to walk and with growth retardation (weight 15 kg, length: 92 cm). The first registered fracture is at birth, consisting o...

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ba0006p070 | (1) | ICCBH2017

The abnormally high and heterogeneous bone matrix mineralization after childhood solid organ transplantation is not further increased by bisphosphonate treatment

Fratzl-Zelman Nadja , Valta Helena , Pereira Renata C , Misof Barbara M , Roschger Paul , Jalanko Hannu , Wesseling-Perry Kathrine , Klaushofer Klaus , Makitie Outi

Background: Chronic renal, liver and heart failure in children associate with multiple skeletal complications. Increased fracture incidence often persists after transplantation and might be related to alterations in bone material properties. Moreover, it is not clear whether bisphosphonate therapy (BP) alters bone matrix mineralization in these patients.Methods: In the present study we evaluated bone mineralization density distribution (BMDD) by quantita...

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ba0006p071 | (1) | ICCBH2017

In search of hypophosphatasia: a need to establish normative data for low alkaline phosphatase in pediatric population

Abramowicz Pawel , Konstantynowicz Jerzy , Zelazowska-Rutkowska Beata , Cylwik Bogdan

Background: Hypophosphatasia (HPP) is a rare inborn error of metabolism caused by mutations in the gene encoding tissue-nonspecific alkaline phosphatase gene (TNSALP), leading to low alkaline phosphatase (ALP) activity. At least 6 clinical forms of HPP have been reported. Certain benign or asymptomatic presentations of HPP in older children may remain undiagnosed, in contrast to severe perinatal and infantile types. The underlying reason of this diagnostic inconsisten...

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ba0006p072 | (1) | ICCBH2017

Raised intracranial pressure in a boy with Pycnodysostosis with open fontanelles

Al Hashmi Laila , Padidela Raja , Skae Mars , Mughal M Zulf

Background: Pycnodysostosis (PDO) is a rare autosomal recessive high bone mass disorder caused by absence of active cathepsin K, which is a lysosomal cysteine protease that plays an important role in degrading the organic matrix of bones. In spite of open fontanelles, raised intracranial pressure has been reported in children with PDO.Presenting problem: We describe a 13-year-old boy with PDO who developed raised intracranial pressure (ICP) which led to ...

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ba0006p073 | (1) | ICCBH2017

Spectrum of paediatric hypophosphataemic rickets in a tertiary centre

Cottrell Emily , Mushtaq Talat

Background: Hypophosphataemic rickets is a rare form of rickets characterised by hypophophatamaemia and hyperphosphaturia. Children can present with bowed legs, gait abnormalities or persisting rickets. Occasionally the clinical and biochemical features may be mild. It is most commonly caused by a mutation in the phosphate-regulating endopeptidase homolog, X-linked (PHEX) gene which leads to an elevated FGF23.Objectives: We wished to review our cohort of...

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ba0006p074 | (1) | ICCBH2017

High bone turnover markers and disturbances of bone mineral density in children with hypophosphataemic rickets

Rusinska Agnieszka , Michalus Izabela , Woch Izabela , Adamiecka Paulina , Chlebna-Sokol Danuta

Introduction: Hypophosphataemic rickets belongs to genetically determined rare disorders characterised by bone deformations, including varus deformity of the lower limbs and short stature. This type of rickets is related to renal phosphate wasting and hypophosphataemia. Less is known about bone turnover abnormalities and bone mass in this disease entity.Aim: The aim of this study was to analyse bone turnover markers and bone mineral density in patients s...

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ba0006p075 | (1) | ICCBH2017

Improvement of bone density in eating disorders correlates with improvements in growth

Shepherd Sheila , Mason Avril , Shaikh Guftar , Ahmed Faisal

Introduction: Children and adolescents with eating disorders are at risk of reduced bone mass and bone mineral density. Indeed, 60% higher risk of fracture has been reported in childhood/adolescent eating disorders compared to healthy controls. However, few longitudinal studies have been carried out to examine size adjusted changes in bone health over time, and the relationship with anthropometry and growth.Methods: A retrospective audit of 25 female eat...

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ba0006p076 | (1) | ICCBH2017

Abstract withdrawn....

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ba0006p077 | (1) | ICCBH2017

The role of bone age in the evaluation of trabecular bone score (TBS) of children and adolescents 5--19 years old

Guagnelli Miguel Angel , Ambrosi Regina , Lopez-Gonzalez Desiree , Winzenrieth Renaud , Del Rio Luis , Clark Patricia

Rationale: Trabecular Bone Score (TBS) is a texture-based tool analyzing DXA images in order to assess bone microarchitecture in the lumbar region. In pediatric population, definition of normative values has remained elusive due to the disparities of results in normal population, probably link to uncontrolled factors which impact bone microarchitecture and the nonlinear behavior of bone growth. Our objective was to evaluate TBS in healthy Mexican children and adolescents using...

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ba0006p078 | (1) | ICCBH2017

Abstract withdrawn....

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ba0006p079 | (1) | ICCBH2017

Assessment of a semi-automated software program for the identification of vertebral fractures in children

Alqahtani Fawaz , Messina Fabrizio , Kruger Elzene , Gill Heerunpal , Ellis Michael , Lang Isla , Broadley Penny , Offiah Amaka

Purpose: We aimed to assess observer reliability and diagnostic accuracy in children, of a semi-automated 6-point technique developed for vertebral fracture diagnosis in adults, which records percentage loss of vertebral body height.Methods: Reading 137 spine radiographs of children and adolescents, diagnostic accuracy (sensitivity, specificity and 95% confidence interval) calculations of five observers for SpineAnalyzer were calculated. Comparison...

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ba0006p080 | (1) | ICCBH2017

Bone age assessment using Greulich and Pyle and Tanner-Whitehouse methods: a systematic review

Alshamrani Khalaf , Offiah Amaka

Objectives: To have a better understanding of the applicability of the Greulich and Pyle and Tanner Whitehouse methods of bone age estimation in children who are of a different ethnicity from those of the original standards.Method: A systematic search of the Medline database was conducted to include studies published between 1st January 1959 and 1st May 2016 (keywords Greulich Pyle; Greulich and Pyle) and 1st January 2001 and 1st ...

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ba0006p081 | (1) | ICCBH2017

Bone age determination using dual-energy X-ray absorptiometry

Alshamrani Khalaf , Offiah Amaka , kruger Elzene

Objective: To assess whether hand-wrist dual-energy x-ray absorptiometry (DXA) can replace radiographs for bone age assessment using the Greulich & Pyle (G&P) and/or Tanner & Whitehouse (TW3) methods.Methodology: Purposive sampling was used to include a total of 20 patients identified from an Endocrine Clinic; two males and two females from each of 5 age groups (<5; 5 to 7; 8 to 10; 11 to 13; 14 to 16 years). Bone age as determined from D...

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ba0006p082 | (1) | ICCBH2017

Impact of age, sex, location of injury, physical activity, vitamin D and calcium intake on the injury outcome of wrist and ankle in children

Alshamrani Hassan A , Alloub Hana , Burke Derek , Offiah Amaka C

Objectives: The aim of this study was to assess the impact of age, sex, location of injury, physical activity, dietary intake of calcium and vitamin D on injury outcome in otherwise healthy children.Materials: This study was a cross-sectional prospective study. Children aged 6 to 15 years who presented to the Emergency Department of a single tertiary paediatric referral hospital were recruited. Children were included it they were known not to have underl...

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ba0006p083 | (1) | ICCBH2017

Schmorl's node and vitamin D deficiency: cause or coincidence

Kara Ilknur Surucu , Calmasur Altan , Orbak Zerrin , Karavas Erdal , Soyturk Mehmet

Pathologist Christian Georg Schmorl described a specific type of vertebral lesion, which is now known as Schmorls node. A Schmorls node or intradiscal herniation is herniation of nucleus pulposus through the cartilaginous and bony end plate into the body of an adjacent vertebra. Schmorl nodes are seen primarily in the thoracolumbar spines in an elderly population. Schmorl nodes are associated with moderate but not advanced degenerative changes. An 11-year-male pres...

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ba0006p084 | (1) | ICCBH2017

Chronological age, height adjusted age and bone age: Which of them correlates better to bone mineral density in kidney-transplant recipient children?

Ambrosi Regina , Guagnelli Miguel Angel , Almiray Alma , Hernandez Ana , Medeiros Mara , Clark Patricia

Chronic kidney disease in children causes multiple bone alterations, particularly renal osteodystrophy, which affects both bone quality and size, in turn causing short stature, bone deformities and brittleness. Once they get a transplant, this process starts to revert, and although mineral alterations improve, short stature often requires growth hormone supplementation but bone fragility requires evaluations in order to revert the diseases effects. DXA is a valuable tool...

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ba0006p085 | (1) | ICCBH2017

Cumulative radiation exposure from diagnostic imaging and associated lifetime cancer risk in children with Osteogenesis Imperfecta

Thorby-Lister Amy , Hogler Wolfgang , Hodgson Kirsten , Crabtree Nicola , Shaw Nick , Saraff Vrinda

Background and objectives: Fracture rate in Osteogenesis Imperfecta (OI) is highest between 0 and 19 years, and associated radiation exposure also carries the highest lifetime cancer risk. Here, we investigate the cumulative effective radiation dose (E) and lifetime cancer risk from diagnostic imaging in OI children. We also explore the hypothesis that negative family history of OI will increase injury-related, fracture-negative X-rays due to parental anxiety.<p class="abs...

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ba0006p086 | (1) | ICCBH2017

Feasibility and reproducibility using HRpQCTII in children and adolescents

Kent Kyla , Whalen Jessica , Strickland Ariana , Leonard Mary , Burghardt Andrew J.

We recruited 60 healthy volunteers ages 5 to 21 to perform scan-rescan precision tests on the XtremeCT II. Participants were positioned in a carbon fiber immobilization cast. iPad-based video content was used to facilitate motion-free compliance. Distal radius and tibia scans were acquired starting 2 mm proximal to the proximal margin of the growth plate or growth plate remnant. Diaphyseal radius and tibia scans were centered at an offset from the same landmark, corresponding ...

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ba0006p087 | (1) | ICCBH2017

Cranial synostosis and Chiari 1 malformation in X-linked hypophosphatemic rickets

Rothenbuhler Anya , Bacchetta Justine , Debza Yahya , Lambert Anne-Sophie , Merzoug Valerie , Linglart Agnes , Adamsbaum Catherine , Di Rocco Federico

Background: X-linked hypophosphatemic rickets (XLHR) represents the most common form of hypophosphatemia.Aim: The aim of this prospective study was to describe and analyze the incidence of cranial and cervico-occipital junction (COJ) anomalies in a series of children with XLHR.Patients and methods: Seventeen children (13 girls, 4 boys, mean age 7.3 years) followed for XLHR at the French national reference center for rare diseases o...

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ba0006p088 | (1) | ICCBH2017

Normative data for lateral distal femur bone mineral density in children from 3 to 18 years of age using Lunar Prodigy absorptiometry

Fiscaletti Melissa , Rauch Frank , Foster Bethany , Alos Nathalie

Objectives: Children with compromised weight bearing and limited mobility are particularly at risk for fractures with minimal trauma. Unfortunately, they can also present several obstacles that can impede proper dual X-ray absorptiometry (DXA) scan assessment of whole body or spine bone mineral density (BMD). Since the distal femur is the most common site of fracture in those patients, the lateral distal femur (LDF) represents the site that best addresses the challenges of BMD...

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ba0006p089 | (1) | ICCBH2017

Cross Calibration of GE Lunar DPX Pro and GE Lunar iDXA

Mandlik Rubina , Kirtikar Utkarshini , Ekbote Veena , Jaiswal Anjali , Kadam Nidhi , Khadilkar Vaman , Chiplonkar Shashi , Khadilkar Anuradha

Objective: The objective of this study was to enable migration of DXA data of patients following replacement of the GE Lunar DPX-Pro, pencil beam densitometer with GE Lunar iDXA, fan beam densitometer.Methods: Scans of total body were conducted for 67 subjects, aged 3.0 to 19.9 years, on both machines. A sub-set of six subjects (3 boys) were randomly selected and reserved as a validation sample. Differences between the values obtained on the two machines...

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ba0006p090 | (1) | ICCBH2017

Intra-observer precision of vertebral height measurements using spine X-Rays And DXA in boys with Duchenne Muscular Dystrophy

Morrice R , Joseph S , Horrocks I , Shepherd S , Ahmed SF , Wong SC

Background: The role of untrained observers in evaluating vertebrae height and therefore detection of vertebral fracture (VF) from spinal radiographs (SXR) and dual energy-absorptiometry (DXA) images in children with concerns about osteoporosis is currently unknown.Objective: To assess intra-observer agreement of morphometric measurements of vertebra height by an untrained observer using SXR and DXA in boys with Duchenne Muscular Dystrophy (DMD).<p c...

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ba0006p091 | (1) | ICCBH2017

Reliability and validity of DXA based images for measurement of height in children

Macdonald R , Capaldi N , Joseph S , Mason A , Wong SC

Background: Height is required for interpretation of bone mineral density in children and is often challenging in non-weight bearing children. Monitoring of linear growth in non-weight bearing children as part of assessment of bone health is also important.Objective: To investigate the feasibility of a novel method of using DXA images to measure height (Ht), sitting height (SH) and leg length (LL).Methods: Ht and SH were measured o...

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ba0006p092 | (1) | ICCBH2017

Bone mineral density and quantitative ultrasound in the longitudinal monitoring of bone status in patient with Neurofibromatosis Type 1

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

Objectives: Neurofibromatosis 1 (NF1) is one of the most common autosomal dominant diseases. Skeletal involvement such as short stature, kyphoscoliosis, tibial bowing and pseudarthrosis are common osseous manifestations of NF1. Moreover, there is a growing evidence that reduced bone mineral density (BMD), is a common feature of NF1 subjects. The aim of the study was to evaluate the usefulness of Bone Mineral Density and Quantitative Ultrasound (QUS) at phalanxes in the assessm...

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ba0006p093 | (1) | ICCBH2017

A boy with spondylo-epiphyseal dysplasia tarda

Karaguzel Gulay , Acikgoz Emel

Background: Spondylo-epiphyseal dysplasia tarda (SEDT) is a rare late-onset X-linked recessive osteochondrodysplasia that mainly involves the epiphyses and vertebral bodies. Patients usually have short stature and early development of degenerative joint disease.Presenting problem: A 12-year-old boy was referred to our hospital for evaluation of short stature. His height was 125 cm (−3.03 SDS), weight was 22 kg (−0.5 SDS), arm span 130 cm. The...

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ba0006p094 | (1) | ICCBH2017

Bone health assessment in children with thalassaemia major

Sakka Sophia , Crabtree Nicola , Kumar Aswath , Velangi Mark , Hogler Wolfgang , Shaw Nick J.

Objectives: Bone disease is a long-term complication in patients with thalassaemia and therefore current UK guidelines recommend biannual bone density assessment from the age of 10 years. The aim of this study was to evaluate bone health in children with thalassaemia major.Methods: Twenty-nine patients (11 boys) with a mean (S.D.) age of 13.07 year (2.29) with thalassaemia major had measurement of lumbar spine BMAD (L2-L4) and of total bod...

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ba0006p095 | (1) | ICCBH2017

Legg Calve Perthes disease and growth hormone treatment

Belceanu Alina Daniela , Armasu Ioana , Tirnovan Mirela , Bursuc Anamaria , Cabac Mariana , Crumpei Iulia , Constantinescu Georgiana , Preda Cristina , Ungureanu Maria Christina , Vulpoi Carmen

Background: Current extension in the usage of growth hormone therapy (GHT) has increased the prevalence of bone complications. Legg Calvé Perthes disease (LCPD) is characterized by idiopathic avascular necrosis of the proximal femoral epiphysis. More frequently in boys between 4 and 8 years, LCPD is of unknown ethology. An increased incidence has been stated in case of GH deficiency. There is increasing data that children with LCPD may have a more widespread skeletal diso...

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ba0006p096 | (1) | ICCBH2017

Chronic intermittent torticollis in a toddler: a rare case of axis (C2) Ewing sarcoma presentation

Papadakis Vassilios , Vlachopapadopoulou Elpis , Antoniadi Kondylia , Tzotzola Vassiliki , Nikas John , Stefanaki Kalliopi , Sfakianos George , Polychronopoulou Sophia

Background: Torticollis in toddlers is most frequently a manifestation of traumatic atlantoaxial rotatory displacement or oropharyngeal inflammation, and rarely due to retropharyngeal abscesses and pyogenic cervical spondylitis. Rarely, intermittent torticollis may be caused by posterior fossa tumors. A very rare case of chronic intermittent torticollis due to upper spine Ewing sarcoma is presented.Presenting problem: A 2.2 year-old girl suffered four ep...

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ba0006p097 | (1) | ICCBH2017

Evaluation of the use of body quantitative computed tomography for the assessment of the tibia in children with Neurofibromatosis 1

Ireland Alex , Mughal Zulf , Adams Judith , Brown Keenan , Eelloo Judith , Ward Kate

Assessment of metaphyseal bone growth in children by peripheral quantitative computed tomography (pQCT) is limited by use of a thin (2.3 mm) 2D slice to represent the ~20 mm metaphyseal region within which there is substantial local variation in bone properties (Marjanovic et al., 2009). In addition, scan positioning is performed by manual visual growth plate identification from which a region located proximal to the growth plate at 4% of tibia leng...

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ba0006p098 | (1) | ICCBH2017

Preliminary precision-error estimates of bone mineral density in children with cerebral palsy

Novotny Susan A. , Nikolova Beth Ann , Sylvanus Tonye S. , Sheridan Kevin J.

Objectives: Dual Energy X-ray Absorptiometry (DXA) is commonly used to monitor changes in bone mineral density (BMD). Small changes in BMD can be clinically meaningful; therefore precision-error calculations are needed to estimate true changes in BMD. The few published studies of precision errors in children with cerebral palsy (CP) are diverse in terms of ethnicities and medical comorbidities. Application of these estimates is inappropriate to our particular Midwest American ...

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ba0006p099 | (1) | ICCBH2017

Bone strength and microarchitectural deficits in children with cystinosis

Burghardt Andrew , Kent Kyla , Long Jin , Whalen Jessica , Phelps Maira , Leonard Mary

Children with cystinosis have numerous risk factors for impaired bone accrual. We used state-of-the-art quantitative imaging of bone microarchitecture (HR-pQCT) to measure trabecular and cortical microstructure and bone strength in children and adolescents (5-20yrs) with cystinosis. We enrolled 20 cystinosis patients and recruited 34 healthy age- and gender- matched controls. Distal radius and tibia HR-pQCT scans (XtremeCT II, Scanco Medical) were acquired 2...

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ba0006p100 | (1) | ICCBH2017

Decreased bone turnover in HIV-infected children on antiretroviral therapy

Shiau Stephanie , Yin Michael , Strehlau Renate , Patel Faeezah , Mbete Ndileka , McMahon Donald , Kuhn Louise , Coovadia Ashraf , Arpadi Stephen

Introduction: Lower bone mineral content (BMC) has been reported in HIV-infected children, as well as those on ritonavir-boosted lopinavir (LPV/r)-based antiretroviral therapy (ART). Older studies of children with HIV report increased bone resorption, but data with current antiretroviral regimens are limited.Methods: This analysis presents data from the CHANGES Bone Study (Johannesburg, South Africa). Whole body (WB) BMC was assessed by dual-energy X-ray...

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ba0006p101 | (1) | ICCBH2017

Establishing the clinical need for a dedicated service for children and adolescents with Osteogenesis Imperfecta in the Republic of Ireland

Ryan Harriet , Qanoobi Maimoona Al , McDonnell Ciara

Objectives: Research studies confirm that children with osteogenesis imperfecta (OI) benefit from co-ordinated multidisciplinary services to optimise outcomes and reduce morbidity and mortality. Implementation of a tertiary paediatric centre of excellence within the Republic of Ireland is contentious due to the absence of data on the prevalence, service needs and medical requirements of these patients.Methods: A retrospective chart review of all patients...

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ba0006p102 | (1) | ICCBH2017

Do measures of adiposity and muscle cross-sectionally predict the health of weight-bearing bones in 11--12 year old Australian children?: A population-based study

Ismail Najmi , Simm Peter , Lycett Kate , Osborn William , Wake Melissa

Objectives: To investigate whether bone health outcomes (volumetric bone mineral density, geometry and strength) is associated with adiposity and muscle in late childhood.Methods: Design: Population-based cross-sectional study nested within the Longitudinal Study of Australian Children. Participants: 1112 year-olds attending the Child Health CheckPoint physical module. Exposures: Measures of adiposity (BMI z-score, fat ma...

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ba0006p103 | (1) | ICCBH2017

Femoral fractures in infants -- comparison of a population-based and an osteogenesis imperfecta-cohort

Ryhanen Hilkka , Vuorimies Ilkka , Toiviainen-Salo Sanna , Kallio Pentti , Makitie Outi , Mayranpaa Mervi

Objectives: Fractures in older children are common, often related to physical activity. In contrast, fractures in infants are rare and especially those involving the femur (upper leg) are infrequent. Femoral fractures in young children are highly suspicious for non-accidental trauma, and screening for possible child abuse should be urgently carried out. However, some metabolic bone diseases, like osteogenesis imperfecta (OI), may predispose to fractures already in infancy and ...

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ba0006p104 | (1) | ICCBH2017

Dietary calcium deficiency contributes to the causation of nutritional rickets (NR) in the United Kingdom (UK): data from the British Paediatric Surveillance Unit (BPSU) NR survey

Zulf Mughal M. , Calder Alistair , Blair Mitch , Julies Priscilla , Pall Karina , Lynn Richard , McDonnell Ciara , McDevitt Helen , Shaw Nick J.

Background: Rickets is a disorder of the growing child arising from impaired mineralisation of the growth plate and osteoid. The most common cause of NR in the UK is thought to be secondary to vitamin D deficiency [VDD; serum 25-hydroxyvitamin D (25OHD) <25 nmol/l], although in some African & South Asian countries dietary calcium deficiency (DCaD) by itself, or together with VDD is an important cause of NR (Ann Trop Paediatr. 2006;26:116). Currently, the data on ...

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ba0006p105 | (1) | ICCBH2017

Low serum alkaline phosphatase is often not recognised by clinicians

Moylan Alex , Zulf Mughal M. , Wakeling Emma L. , Peeva Daniela , Jacobs Benjamin

Objective: The significance of low alkaline phosphatase (ALP) is often not recognised by clinicians. It is the hallmark of hypophosphatasia and this oversight leads to delays in diagnosis, inappropriate treatment and potentially harm. Using the standard that an abnormal result should be recognised by the clinician and the potential cause and need for further investigation documented in the medical records we conducted an audit of our practice at the Royal National Orthopaedic ...

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ba0006p106 | (1) | ICCBH2017

Does growth hormone and estrogens prevent girls with Turner syndrome from increased fracture rates?

Soucek Ondrej , Hlavka Zdenek , Lebl Jan , Sumnik Zdenek

Objectives: Turner syndrome (TS) affects 1:2000 girls and is mainly characterised by short stature and ovarian failure. Increased fracture risk has been reported in historical cohorts of women with TS and it was linked to their decreased bone mineral density (BMD). Nowadays, girls with TS are treated with growth hormone and substituted with estrogens, of which role in optimal bone mass accretion has been confirmed. Whether increased fracture rate is still of concern in these p...

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ba0006p107 | (1) | ICCBH2017

A case of a novel de novo PLS3 deletion, presenting with vertebral fractures and mild dysmorphism

Doulgeraki A. , Costantini A. , Kampe A. , Karavitakis E. , Jantti N. , Krallis P. , Athanasopoulou H. , Xaidara A. , Makitie O.

Background: Mutations in the PLS3 gene, encoding plastin 3, cause X-linked osteoporosis. Osteoporosis is characterized by low bone mineral density (BMD) and increased susceptibility to fractures. Here we describe a 7-year-old boy with osteoporosis due to a novel PLS3 deletion.Presenting problem: The patient, born to non-consanguineous parents, had a history of one low-energy long-bone fracture, three vertebral fractures (T5, T6 T8) and kyphosis. DXA scan...

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ba0006p108 | (1) | ICCBH2017

Genetic transmission of osteogenesis imperfecta type V by a healthy mosaic carrier father

Symoens Sofie , Maurer Kathrin , Schweigmann Gisela , Steichen-Gersdorf Elisabeth

Background: OI-V is an autosomal dominant type of OI, which is characterized by recurrent fractures, hyperplastic callus formation and forearm interosseous membrane calcification. Less than 5% of OI patients are diagnosed with OI-V. The 5-UTR IFITM5 mutation is a single recurrent heterozygous mutation reported in the majority of these patients.Presenting problem: The 2 years old girl was born at term, BW 2880g(P25-50), L 48 cm (P25-50), OF...

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ba0006p109 | (1) | ICCBH2017

Microdeletion of 12p11.22-p11.21 resulting in a skeletal dysplasia characterized by significant metaphyseal abnormalities and osteolysis

Harrington Jennifer , Howard Andrew , Spielmann Malte , Kannu Peter

Background: Parathyroid hormone-like hormone (PTHLH) is an important regulator of endochondral bone development. Mutations of the PTHLH gene can cause a variety of different skeletal dysplasias, with duplications of the PTHLH gene resulting in a phenotype characterized by endochrondomatosis, metaphyseal dysplasia and osteolysis.Presenting problem: Our patient presented at the age of 4 months, given concerns regarding lower limb deformit...

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ba0006p110 | (1) | ICCBH2017

Case report: a potentially new skeletal dysplasia with autosomal recessive inheritance

Lekszas Caroline , Vona Barbara , Nanda Indrajit , Maroofian Reza , Haaf Thomas

Background: In this case report, we introduce a patient presenting a potentially unknown syndrome with skeletal involvement.Presenting problem: At the time of physical examination, the boy was 10 years old, displaying short stature (z-score=−4.4), hearing loss, visual impairment, delayed eruption of teeth and severe dental caries, dysmorphic facial features, micrognathia, mild platyspondyly and genu valgum. Although he appears to have normal intell...

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ba0006p111 | (1) | ICCBH2017

Vitamin D-dependent rickets type 1 due to a novel mutation in CYP27B1

Levy-Shraga Yael , Pode-Shakked Ben , Pode-Shakked Naomi , Barel Ortal , Jacobson Jeffrey , Paret Gideon , Raas-Rothschild Annick

Background: Vitamin D-dependent rickets type 1 (VDDR-1) is a rare autosomal recessive disorder caused by mutations in CYP27B1. This gene encodes the 1α-hydroxylase enzyme which converts 25-hydroxy vitamin D to the active form 1,25-dihydroxyvitamin D.Objective: To describe a case of VDDR-1due to a novel CYP27B1 mutation.Presenting problem: A 27-month-old female was admitted to the Pediatric Intensive Care Unit...

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ba0006p112 | (1) | ICCBH2017

A novel mutation of CYP27B1 in two siblings with vitamin D-dependent rickets type 1A

Orbak Zerrin

: Rickets can occur due to vitamin D deficiency or defects in its metabolism. Mutations in the CYP27B1 gene, which encodes vitamin D 1α-hydroxylase, are the genetic basis of vitamin D-dependent rickets type 1A (VDDR1A, OMIM 264700). Vitamin D dependent rickets type 1 is inherited in an autosomal recessive pattern. We report here a new mutation in CYP27B1, which lead to vitamin D dependent rickets type 1. Two boy siblings from a consanguineous Turkish family presented to e...

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ba0006p113 | (1) | ICCBH2017

A challenging case of hyperphosphatemic tumoral calcinosis

Ribault Virginie , Campeau Philippe M. , Laberge-Malo Marie , Olivier Patricia , Nyalendo Carine , Alos Nathalie

: Hyperphosphatemic tumoral calcinosis (HTC) is a rare autosomal recessive metabolic disorder characterized by ectopic calcifications due to progressive deposition of basic calcium phosphate crystals in soft tissues. The biochemical hallmark of HTC is hyperphosphatemia caused by increased renal absorption of phosphate due to loss-of-function mutations in three genes: in the fibroblast growth factor-23 gene (FGF23) coding for a potent phosphaturic protein, in GALNT3, g...

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ba0006p114 | (1) | ICCBH2017

Rare copy number variants in array-based comparative genomic hybridization in early-onset skeletal fragility

Costantini Alice , Skarp Sini , Kampe Anders , Pettersson Maria , Makitie Riikka , Mannikko Minna , Jiao Hong , Taylan Fulya , Lindstrand Anna , Makitie Outi

Objectives: Early-onset osteoporosis is characterized by low bone mineral density (BMD) and reduced bone strength since childhood or young adulthood. Although several monogenic forms have already been identified, the spectrum of mutations and genes behind this condition remain inadequately characterized. Furthermore, it is not clear whether genetic factors determine susceptibility to bone fractures in children with normal BMD. In order to further explore the genetic background...

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ba0006p115 | (1) | ICCBH2017

Expanding the genotype--phenotype correlation of osteogenesis imperfecta with a novel mutation in Col1A2 gene

Al Qanoobi Maimoona , Ryan Harriet , McDonnell Ciara

Background: Osteogenesis imperfecta [OI] is a disorder of bone fragility with a variable spectrum of severity and poor correlation of antenatal findings with postnatal outcome. We present two antenatal diagnosed cases with a mild postnatal course significant for the absence of fractures and progressive remodelling of the long bones. A novel heterozygous pathogenic mutation predicted to replace glycine with aspartic acid at position 913 in exon 42 of the COL1A2 gene has been id...

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ba0006p116 | (1) | ICCBH2017

Classical SATB2-associated syndrome with severe osteoporosis, recurrent bony fractures and tibial bowing

Jacobs Benjamin , Rose Anna M. , Zulf Mughal M. , Keen Richard , Wakeling Emma L.

Background: Mutations in SATB2 have been described in association with a unique phenotype known as SATB2-associated syndrome (SAS). This condition is characterised by severe intellectual disability affecting speech development, behaviour, facial features and dental anomalies. Skeletal features and osteoporosis have been reported in older individuals (aged 1536), in association with point mutations. We report a 24-year-old man with a SATB2 misse...

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ba0006p117 | (1) | ICCBH2017

Uptake of influenza vaccine in UK patients with fibrodysplasia ossificans progressiva

Gak Nataliya , Vinton Jacqueline , Jacobs Benjamin , Keen Richard

Fibrodysplasia ossificans progressiva (FOP; OMIM #135100) begins in childhood and leads to irreversible restriction of movement, functional impairment, and shortened life-span. Individuals with FOP develop progressive limitations in chest expansion, resulting in restrictive lung disease. Current management guidelines published in 2011 (1) highlight that Influenza may be a causative factor for FOP flare-ups, and can also cause potentially deadly cardiopulmonary complications, e...

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ba0006p118 | (1) | ICCBH2017

Genome-wide association study identifies five novel genetic determinants of dental maturation

Grgic Olja , Vucic Strahinja , Medina-Gomez Carolina , Trajanoska Katerina , Dhamo Brunilda , Jaddoe Vincent , Ongkosuwito Edwin , Jarvelin Marjo-Riitta , Timpson Nicholas , Evans David , Wolvius Eppo , Rivadeneira Fernando

Objectives: Advanced or delayed physiological age may influence significantly health and disease processes. Physiological age can be estimated using several parameters including dental age (DA). Previous meta-analyses studying Number of Teeth at 15 Months (NT15M) and Age at First Teeth Eruption (AFTE) have identified 15 loci. We performed a genome-wide association study (GWAS) meta-analysis to identi...

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ba0006p119 | (1) | ICCBH2017

Phenotypic spectrum in Weyers acrofacial dysostosis: A case report

Rubino Chiara , Stagi Stefano , Petrolini Chiara , Gioe Daniela , La Spina Luisa , Peluso Francesca , Della Monica Matteo , de Martino Maurizio

Background: Weyers acrofacial dysostosis (WAD, OMIM 193530) is a rare autosomal dominant disease, characterized by mildly short stature, postaxial polydactyly, nail dystrophy and dental anomalies. WAD should be distinguished from Ellis-van Creveld syndrome (OMIM 225500), a similar but more severe disease, comprising chondrodysplasia, orofacial anomalies and, in a proportion of patients, cardiovascular malformations. Both diseases are caused by mutations in either EVC or EVC2<s...

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ba0006p120 | (1) | ICCBH2017

Vitamin D-dependent rickets – a rare form of rickets – diagnostics and therapeutic problem

Michalus Izabela , Rusinska Agnieszka , Lupinska Anna , Chlebna Sokol Danuta

Introduction: Pseudovitamin D deficiency rickets type I is inherited in an autosomal recessive pattern and forms usually as a result of mutation of CYP27B1 gene localised at chromosome 12. It leads to the deficiency of L 1-hydroxylase and abnormal hydroxylation of 25-hydroxycholecalciferol (25OHD) at C 1 which constitutes the last (renal) stage of transformation of vitamin D to 1,25dihydroxycholecalciferol (1,25(OH)2D). The clinical picture include...

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ba0006p121 | (1) | ICCBH2017

Abstract withdrawn....

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ba0006p122 | (1) | ICCBH2017

Bisphosphonate treatment initiated in the newborn period – our experience

Bayer Milan , Jirotkova Jana

Background: Osteogenesis imperfecta (OI) is a clinically heterogenous heritable connective tissue disorder with increased bone fragility. Intravenous bisphosphonate therapy is the most widely used medical approach. This treatment leads to an increase of the bone mineral density and reduces the fracture rate.Presenting problem: We present our experience with five OI patients (one female, four males) between 2005 and 2016 who had bone fractures either in u...

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ba0006p123 | (1) | ICCBH2017

Abstract withdrawn....

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ba0006p124 | (1) | ICCBH2017

The treatment of Hyperphosphatemic Familial Tumoral Calcinosis

Khatchadourian Karine , Lawton Lou , Willis Baxter , Ward Leanne

Background: Hyperphosphatemic familial tumoral calcinosis (HFTC) is characterized by hyperphosphatemia and the formation of tumor-like extra-osseous calcifications. Tumors often necessitate surgical management although medical treatment may limit the need for surgical intervention. We present two cases of HFTC successfully managed with combination acetazolamide (ACTZ) and sevelamer carbonate.Case Report #1: A 5-year-old African boy with a loss-of-functio...

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ba0006p125 | (1) | ICCBH2017

Identification and characterization of a novel microRNA inhibiting osteoblast functions by suppressing actin polymerization

John Aijaz Ahmad , Prakash Ravi , Singh Divya

MicroRNAs (miRNAs) are small non-coding RNAs that have emerged as critical post-transcriptional regulators of gene expression. There is increasing evidence that miRNAs play an important role in osteoblast commitment and differentiation. The main aim of this study was to identify and characterize novel microRNAs regulating osteoblast functions. We report the role of mmu-miR-1187 in osteoblast differentiation and the mode by which it regulates osteogenesis. MicroRNA profiling of...

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ba0006p126 | (1) | ICCBH2017

A case of severe reaction following the use of Bisphosphonates in a patient with Osteogenesis Imperfecta

Park Julie , Alsaffar Hussain , Apperley Louise , Bishop Nick , Dharmaraj Poonam , Ramakrishnan Renuka

Background: We present a case of unusual delayed multi-systemic reaction, following treatment with Pamidronate. The reaction, resembling rhabdomyolysis, requiring intensive care support, has not been reported previously to our knowledge.Presenting problem: An 11 month old boy with severe osteogenesis imperfecta (OI) presented with hyperpyrexia and respiratory distress 10 days after his fifth cycle of Pamidronate. He had significant derangement of his bio...

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ba0006p127 | (1) | ICCBH2017

Growth hormone treatment in two short peri-pubertal brothers with X-linked hypophosphatemic rickets

Vitrial Rachel Bello , Tenenbaum Ariel , Lazar Liora , Davidovits Miriam , Lebenthal Yael

Background: X-linked hypophosphatemic rickets (XLH) is characterized by hypophosphatemia, bone deformities, and growth retardation. Conventional treatment of XLH with oral phosphate supplementation and high doses of vitamin D fails to normalize linear growth and adult stature remains disproportionately short. Few studies report on the use of recombinant human growth hormone (rhGH) therapy in pre-pubertal children with XLH.Presenting problem: Two brothers...

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ba0006p128 | (1) | ICCBH2017

Growth and clinical outcome in a 16 year-old male with childhood hypophosphatasia after 1 year therapy with asfotase alfa

Bowden Sasigarn , Adler Brent

Background: Asfotase alfa therapy improves clinical outcome in young children with severe form of hypophosphatasia (HPP). Treatment outcome in older children (≥12 years) has not been reported.Presenting problem: We report clinical outcome of a 16 year-old male with childhood HPP who started enzyme therapy at age 15 years.Clinical management: The patient was diagnosed with HPP at age 2 years when he presented with premature lo...

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ba0006p129 | (1) | ICCBH2017

The case of severe osteoporosis in patient with recessive dystrophic Epidermolysis Bullosa

Balatska Nataliya , Povoroznyuk Vladyslav

Background: Epidermolysis bullosa (BE) is a group of inherited diseases that are characterized by skin and mucosal fragility and blister formation. The various complications such as malnutrition, anemia, growth retardation, esophageal stenosis and deformities may develop. Low bone mass and fractures recognized as complications of generalized forms of EB.Presenting problem: In the Ukrainian medical center of osteoporosis there were examined nine children ...

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ba0006p130 | (1) | ICCBH2017

The impact of intravenous bisphosphonate on vertebral morphometry in children with secondary osteoporosis and vertebral fractures

Timmons JG , Morrice R , Joseph S , Shepherd S , Mason A , Ahmed SF , Wong SC

Background: Intravenous (IV) bisphosphonate (BP) is used for treatment of painful vertebral fractures (VF) in children with underlying chronic conditions. BP effect on vertebral height reshaping in this population is however poorly studied.Aims/Objectives: To evaluate the impact of IV BP on vertebral morphometry in children with VF and underlying chronic medical conditions with associated glucocorticoid (GC) therapy.Methods: Retros...

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ba0006p131 | (1) | ICCBH2017

The treatment of Camurati-Engelmann disease with Losartan: a case report

Moylan Alex , Wakeling Emma L. , Mughal M. Zulf , Keen Richard , Thornton Matt , Peeva Daniela , Jacobs Benjamin

Background: Camurati-Engelmann disease (CED) is a rare bone dysplasia characterised by hyperostosis and sclerosis of the diaphyses of the long bones and skull. It is caused by autosomal dominant gain-of function mutations within TGFB1, which result in increased activity of transforming growth factor β1 (TGF-β1). It typically presents in mid-childhood with bone pain, myopathy and progressive immobility. Evidence for treatment is based on a number of case repo...

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ba0006p132 | (1) | ICCBH2017

Anti-RANKL treatment in a murine model of fibrous dysplasia

Palmisano Biagio , Labella Rossella , Spica Emanuela , Remoli Cristina , Corsi Alessandro , Robey Pamela , Riminucci Mara

Fibrous dysplasia of bone (FD) is a crippling skeletal disease caused by activating mutations (R201C, R201H) of the Gsα gene. We recently generated GsαR201C transgenic mice that develop a FD skeletal phenotype. The analyses of these mice demonstrated that increased bone resorption is one of the main morbidity factors in FD and that RANKL is the major molecular mediator of osteolysis at affected skeletal sites.Ob...

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ba0006p133 | (1) | ICCBH2017

Long term treatment with intravenous pamidronate in two children with severe form of juvenile Paget's disease

Verfurth Katja , Hovel Matthias , Schundeln Michael , Bauer Jens , Grasemann Corinna

Presenting problem: Severe forms of juvenile Pagets Syndrome (JPD) result in extreme bone turnover, necessitating long-term treatment with anti-resorptive drugs to control for bone pain and modeling of bones.Objective: To report clinical and biochemical effects of intravenous treatment with Pamidronate in two children with severe forms of JPD over a time period of 3 and 9 years, respectively. Treatment was commenced at 12 months and 3 years of age,...

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ba0006p134 | (1) | ICCBH2017

Improvement in spinal involvement with zoledronic acid in pediatric patients with chronic recurrent multifocal osteomyelitis: a case series

Robinson Marie-Eve , Sbrocchi Anne Marie , Scuccimarri Rosie

Background: Chronic recurrent multifocal osteomyelitis (CRMO) is a rare inflammatory bone disease characterized by chronic non-infectious osteomyelitis. Spinal involvement has been reported in up to 26% of patients (1). Three studies evaluated the effect of Pamidronate (PAM) on spinal lesions in pediatric patients with CRMO (1, 2, 3) and showed partial or complete resolution of vertebral hyperintensities on MRI (1). However, the effect of Zoledronic acid (ZOL) in pediatric pat...

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ba0006p135 | (1) | ICCBH2017

Continuous subcutaneous PTH infusion in autosomal dominant hypocalcaemia

Gevers Evelien , Buck Jacqui , Ashman Neil , Thakker Rajesh , Allgrove Jeremy

Objectives: Autosomal Dominant Hypocalcaemia (ADH) is due to gain-of-function mutations of the CASR resulting in constitutive activation of the GPCR Calcium Sensing Receptor (CaSR) leading to hypercalciuric hypocalcaemia, hypoparathyroidism and occasionally Bartter syndrome type V. Patients usually present with hypocalcaemic seizures at young age. Conventional treatment is with Alfacalcidol and Calcium or PTH injections. We describe a series of five patients with ADH ...

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ba0006p136 | (1) | ICCBH2017

Preliminary results for a ramping model of pamidronate administration

Givens Alyssa K , Bachrach Steven , Harcke H Theodore , Kecskemethy Heidi H

Objectives: Examine the effects of a ramped dosage schedule of pamidronate on BMD, fracture rate and location compared to a uniform 5-course regimen. The ramping regimen is intended to alter the tendency for post-treatment fractures to occur at the juncture of pamidronate bands where stress-riser related fractures have been described.Methods: Ten non-ambulatory children (seven females) with neuromuscular disabilities who received IV pamidronate with a ta...

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ba0006p137 | (1) | ICCBH2017

Growth, bone and muscle mass are adversely affected in bone marrow transplant recipients: a body composition analysis

Doulgeraki Artemis , Vlachopapadopoulou E , Peristeri I , Paisiou A , Polizois G , Kaisari K , Monopolis I , Vessalas G , Michalacos S , Kitra V

Objectives: There are many factors leading to poor bone health and imbalanced body composition in bone marrow transplant (BMT) recipients. We aimed to report our patients profile and to correlate it with clinical parameters.Methods: Cross-sectional study of paediatric BMT patients. Assessment of growth (height, weight, BMI) and dual-energy X-ray absorptiometry (DXA) for evaluation of bone mineral density (BMD) and geometry, muscle and fat mass. All...

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ba0006p138 | (1) | ICCBH2017

Fibrodysplasia ossificans progressiva: baseline characteristics of 101 subjects participating in a global, longitudinal, natural history study

Kaplan Frederick S , Hsiao Edward C , Baujat Genevieve , Brown Matthew A , De Cunto Carmen , Di Rocco Maja , Keen Richard , Al Makkadam Mona , Grogan Donna R , Pignolo Robert J

Objectives: Progressive heterotopic ossification in fibrodysplasia ossificans progressiva (FOP; OMIM #135100) begins in childhood and leads to irreversible restriction of movement, functional impairment, and shortened life-span. Baseline data from an on-going, global, 3-year, natural history study (NHS) describe FOP disease characteristics, and retrospective flare-up history, causes/symptoms, and outcomes.Methods: Data from 101 subjects (recruited from 2...

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ba0006p139 | (1) | ICCBH2017

Relative impact of muscle strength and muscle mass on bone mineral density in Japanese adolescents: data from the Kitakata Kids Health Study

Kouda Katsuyasu , Fujita Yuki , Tachiki Takahiro , Yura Akiko , Sato Yuho , Myadagmaa Jaalkhorol , Dongmei Namiraa , Ohara Kumiko , Nakamura Harunobu , Iki Masayuki

Objective: Little is known about the effects of muscle strength and muscle mass on bone health in children and adolescents. We examined the relative impact of muscle strength and muscle mass on bone mineral density in Japanese adolescents.Methods: Subjects were 236 adolescents aged 1518 years in August 2010 and August 2013 who were enrolled in the Kitakata Kids Health Study in Japan. Cross-sectional data including appendicular skeletal muscle mass ...

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ba0006p140 | (1) | ICCBH2017

Bone mineral accretion is increased during winter and is positively related to lean mass accretion in healthy children 2--8 years

Brett Neil , Vanstone Catherine , Weiler Hope

In children, it is not well understood how bone mineral accretion is related to lean mass accretion and vitamin D status.Objective: To explore over 12 mo how bone parameters relate to lean mass and vitamin D metabolites in children 28 years.Methods: This was a secondary analysis of data from 2 trials (clinicaltrials.gov: NCT02097160, NCT02387892) in Montreal, Canada. Children consumed their normal diet without vitamin D suppl...

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ba0006p141 | (1) | ICCBH2017

Unique correlation pattern between cortical trabecular bone qualities and standard dynamometer handgrip strength in girls with adolescent idiopathic scoliosis (AIS)?

Tam Elisa M S , Cheuk Ka-Yee , Hung Vivian W Y , Yu Fiona W P , Ng Bobby K W , Guo X Edward , Cheng Jack C Y , Lam Tsz-Ping

Objective: Grip strength is a marker of muscle mass which can optimize bone strength during puberty. While previous studies have shown AIS girls had poor bone qualities and mechanical properties when compared with non-AIS girls, the correlation between bone qualities and handgrip strength in AIS remains undefined. This study aimed to investigate the correlation between handgrip strength and bone qualities including volumetric bone mineral density (vBMD), bone geometry, trabecu...

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ba0006p142 | (1) | ICCBH2017

Walking within 12 months of age is related to higher whole body lean mass and bone mineral density in children at 3 years of age

Weiler Hope , Vanstone Catherine

Gross motor development is positively associated with bone mineral density in teenagers and is thought to be mediated by lean mass. Age at walking is an accepted milestone in motor development, achieved by 50% of infants by 12 mo of age according to the WHO Motor Development Study.Objective: To examine if walking within 12 mo of age is related to bone mineral density (BMD) and if this relationship is mediated by lean mass.Methods: ...

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ba0006p143 | (1) | ICCBH2017

Gender differences in bone health in a cohort of adolescents with developmental coordination disorder

Chivers Paola , Rantalainen Timo , McIntyre Fleur , Hands Beth , Weeks Benjamin , Beck Belinda , Hart Nicolas , Siafarikas Aris

Objective: Individuals with Developmental Coordination Disorder (DCD) have difficulty coordinating movements and are often unable to perform common, age-appropriate tasks. Approximately 56% of school-aged children are affected by DCD and the condition may persist throughout adolescence and into adulthood. Australian adolescents with DCD have poor bone health compared to European normative data. It can be hypothesized that this is due to a lack of loading resulting from d...

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ba0006p144 | (1) | ICCBH2017

Soft tissues, areal bone mineral density and hip geometry estimates in active young boys: the PRO-BONE study

Gracia-Marco Luis , Vlachopoulos Dimitris , Wilkinson Kelly , Klentrou Panagiota , Ubago-Guisado Esther , de Moraes Augusto Cesar Ferreira , Barker Alan R , Williams Craig A , Moreno Luis A

Objectives: Soft tissues, such as fat mass (FM) and lean mass (LM), play an important role in bone development but this is poorly understood in highly active youths. The objective of this study was to determine whether FM or LM is a stronger predictor of areal bone mineral density (aBMD) and hip geometry estimates in a group of physically active boys after adjusting for height, chronological age, moderate-to-vigorous physical activity (MVPA), FM, and LM....

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ba0006p145 | (1) | ICCBH2017

Longitudinal growth and bone development in glucocorticoid treated boys with Duchenne muscular dystrophy

Joseph S , Capaldi N , DiMarco M , Dunne J , Horrocks I , Shepherd S , Ahmed S F , Wong S C

Background: There is still limited information on changes in growth especially segmental growth and bone mass of glucocorticoid(GC) treated boys with Duchenne Muscular Dystrophy (DMD).Objectives: To evaluate changes in growth and bone mass in GC treated boys with DMD.Methods: Retrospective study of 15 boys with DMD treated with GC, median age 7.6 years (4.1, 15.5) who had repeated DXA scan for clinical monitoring of bone health, me...

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ba0006p146 | (1) | ICCBH2017

Stature and longitudinal growth in glucocorticoid naive boys with Duchenne Muscular Dystrophy

Joseph S , Edwards G , DiMarco M , Abu-Arafeh I , Baxter A , Horrocks I , McWilliams K , Naismith K , Stephen E , Ahmed S F , Wong S C

Background: Previous studies with small number of boys with Duchenne Muscular Dystrophy (DMD) suggest that growth failure occurs in glucocorticoid naïve (GC) boys.Objective: To evaluate height and longitudinal growth in boys with DMD prior to GC.Method: Retrospective evaluation in boys with DMD with height measurements obtained for clinical purposes. Out of the 91 boys currently managed in Scotland, 51 had at least one height ...

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ba0006p147 | (1) | ICCBH2017

Bone health in boys with Duchenne muscular dystrophy (DMD): the dichotomy between bone density and fracture

Crabtree Nicola , Hogler Wolfgang , Roper Helen , Shaw Nicholas

Objectives: Current guidelines recommend annual assessments of bone densitometry in boys with Duchenne muscular dystrophy (DMD). However, this recommendation is based on the assumption that bone density is a predictor of fractures in this patient group. The aim of this study was to evaluate the relationships between long-term changes in bone density, corticosteroid exposure and mobility with vertebral and long bone fractures.Methods: Twenty-four DMD boys...

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ba0006p148 | (1) | ICCBH2017

Muscle density measurement in muscular dystrophy

Bechtold Susanne , Blaschek Astrid , Muller-Felber Wolfgang , Roeb Julia , Weissenbacher Claudia , Sydlik Carmen , Schmidt Heinrich

Objective: Muscular dystrophy is characterized by lower skeletal muscle quality, lower muscle strength and physical performance. The aim of the study was to assess regional muscle density and its correlation with regional muscle area in Duchenne muscular dystrophy (DMD) subjects and able bodied controls.Method: Skeletal muscle pQCT (peripheral quantitative computed tomography) scans at the non-dominant forearm were performed in patients with muscle dystr...

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ba0006p149 | (1) | ICCBH2017

Abstract withdrawn....

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ba0006p150 | (1) | ICCBH2017

DXA based evaluation of the bone mass and body composition in a group of Romanian cystic fibrosis children

Barbu Carmen Gabriela , Lungu Diana , Comanici Valentina Daniela , Stan Iustina

Background: The significant increase in the life expectancy of the patients with cystic fibrosis (CF) came with some costs, as new complications have emerged. Among endocrine disorders, CF-related bone disease (CFBD) is a leading complications reported in the adult patients.Objectives: Our study present the first results of the bone mass and body composition evaluation by DXA in a small group of Romanian children with CF treated in the authors depa...

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ba0006p151 | (1) | ICCBH2017

Characterisation of skeletal developmental in mouse models of Duchenne Muscular Dystrophy

Wood Claire , Wong Sze C , Straub Volker , Ahmed S Faisal , Farquharson Colin

Short stature and osteoporosis are common in DMD. Disease progression can be slowed by glucocorticoids but these are associated with further growth retardation and skeletal fragility. The defect in growth and skeletal development in children with DMD is probably multifactorial and not solely dependent on glucocorticoid exposure. The muscular dystrophy x-linked (mdx) mouse is the most commonly used animal model of DMD. However, its growth phenotype has not been studied...

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ba0006p152 | (1) | ICCBH2017

Seasonal variation in internet searches for vitamin D

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

Objective: Over the last decade, there has been increasing scientific interest in vitamin D, and it is now advised that all pregnant women and infants should receive vitamin D supplementation. Despite of this, it is recognized that knowledge of vitamin D in the general public is limited. The internet is now an important source of health care information and analysis of internet search activity rates can provide information on disease epidemiology, health related behaviors and ...

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ba0006p153 | (1) | ICCBH2017

Vitamin D intake and status in children 2–18 years: a meta-analysis

Brett Neil , Weiler Hope

Evidence is unclear on the effect of vitamin D intake on vitamin D status in children.Objective: In a meta-analysis, investigate the effect of vitamin D supplements and/or fortified foods on vitamin D status, using the biomarker 25-hydroxyvitamin D (25(OH)D) in children 218 years.Methods: Eligible studies were randomized placebo-controlled trials, published in English, in children 218 years that compared vitamin D suppl...

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ba0006p154 | (1) | ICCBH2017

Maximal suppression of parathyroid hormone as a determinant of optimal vitamin D status in adolescents

Smith Taryn , Tripkovic Laura , Damsgaard Camilla , Molgaard Christian , Hennessy Aine , Dowling Kirsten , Cashman Kevin , Kiely Mairead , Lanham-New Susan , Hart Kathryn

Suppression of parathyroid hormone (PTH) has been suggested as a potential biochemical outcome measure for determining the optimal serum 25-hydroxyvitamin D (S25(OH)D) concentration for bone health in adults. However, in adolescents increases in PTH may not be driven by the same mechanisms and may not be detrimental to bone health. Adolescent studies have provided a wide range of estimates of the S25(OH)D concentration at which PTH plateaus (4090 nmol/l), with some repor...

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ba0006p155 | (1) | ICCBH2017

Dietary protein is associated with bone adaptations and performance of pre-adolescents

Stampoulis Theodoros , Leontsini Diamanda , Avloniti Alexandra , Draganidis Dimitrios , Chatzinikolaou Athanasios , Venetsanou Fotini , Deli Chariklia , Vlachopoulos Dimitris , Gracia-Marco Luis , Michalopoulou Maria , Jamurtas Athanasios , Fatouros Ioannis , Kambas Antonis

Objectives: Nutrition in childhood is a major factor for healthy living during adulthood. Bone mass is influenced immensely by nutritional intake, especially protein intake which is very important for bone matrix and the integrity of skeletal structure. This study aimed to identify the effects of dietary protein intake on bone mineral density (BMD), bone mineral content (BMC) and performance of children aged 612 years old.Methods: A repeated measur...

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ba0006p156 | (1) | ICCBH2017

Bone health status of underprivileged Indian adolescent girls

Mandlik Rubina , Ekbote Veena , Kajale Neha , Jaiswal Anjali , Chiplonkar Sahshi , Khadilkar Vaman , Padidela Raja , Mughal Zulf , Khadilkar Anuradha

Objectives: Earlier studies performed using dual energy X-ray absorptiometry indicate that underprivileged Indian girls acquire low bone mass during adolescence. Therefore, aim was to assess bone geometry of underprivileged Indian adolescent girls (age 1219 years) using peripheral quantitative computed tomography (pQCT).Methods: Fifty-six adolescent girls were assessed for anthropometry (height, weight) (February 2016 to January 2017) and pQCT (STR...

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ba0006p157 | (1) | ICCBH2017

Are there gender differences in abdominal fat distribution in healthy teenagers?

Duboeuf Francois , Boutroy Stephanie , Ginhoux Tiphanie , Roux Jean-Paul , Chapurlat Roland , Bacchetta Justine

Background: While the relationship between visceral (VFAT) and subcutaneous (SFAT) fat mass with cardiometabolic risk has been demonstrated in adults, fat mass evolution during teenagehood remains poorly explored and usually assessed with irradiative (CT) or expensive (MRI) techniques. Our aim was to evaluate a novel technique derived from DXA to assess VFAT and SFAT in healthy teenagers.Subjects and methods: Healthy teenagers from the VITADOS study unde...

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ba0006p158 | (1) | ICCBH2017

Bone metabolism in adolescent girls with anorexia nervosa

Ticha Lubica , Payer Juraj , Killinger Zdenko , Lencsesova Alzbeta , Podracka Ludmila

Introduction: Anorexia nervosa usually has its onset during adolescence, the critical time when peak bone mass is accrued. Inadequate nutrition abnormalities and endocrine changes during starvation have a negative effect on bone health. The aim of this work was to investigate the effects of hormonal and auxological parameters on markers of bone metabolism, bone mineral density in girls with anorexia.Patients a...

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ba0006p159 | (1) | ICCBH2017

Maternal calcium supplementation in a rural Gambian population associated with reduced blood pressure among adolescent female, but not male, offspring

Schoenbuchner Simon , Moore Sophie , Jarjou Landing , Ward Kate , Prentice Ann

We have previously observed sex-specific effects of maternal calcium supplementation on offspring childhood growth, in a rural Gambian population with habitually low calcium intake (~300 mg daily).1,2 There was no effect on maternal blood pressure, the primary outcome of the original trial.3 In this study, we aim to investigate effects on offspring blood pressure (BP) in the same cohort. We recruited children (205 female, 182 male) born following a random...

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ba0006p160 | (1) | ICCBH2017

Maternal calcium supplementation in a rural Gambian population associated with reduced height and weight among adolescent female, but not male, offspring

Schoenbuchner Simon , Moore Sophie , Jarjou Landing , Prentice Ann , Ward Kate

We have previously reported sex-specific effects of prepubertal calcium supplementation on the timing of adolescent growth,1 as well as sex-specific effects of maternal calcium supplementation on offspring childhood growth,2,3 in a rural Gambian population with habitually low calcium intake (~300 mg daily). In this study, we aim to investigate longer-term effects of maternal calcium supplementation on adolescent growth in same cohort. We recruited childre...

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ba0006p161 | (1) | ICCBH2017

Early-life vitamin D status and bone mass at five years in a prospective birth cohort study

Chaoimh Carol ni , Murray Deirdre , Kenny Louise , Irvine Alan , Hourihane Jonathan , Kiely Mairead

Objective: We aimed to investigate associations between early-life vitamin D status, mode of infant milk-feeding and bone outcomes at five years.Methods: Participants were from the prospective mother-infant SCOPE-BASELINE Birth Cohort Study. Serum 25 hydroxyvitamin D (25(OH)D) concentrations were quantified at 15 weeks gestation, in umbilical cord sera and at two and five years using a gold-standard CDC-accredited LCMS method. Whole-body bone mineral con...

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ba0006p162 | (1) | ICCBH2017

Nutritional rickets presenting to secondary care in children (<16 years) -- A UK surveillance study

Julies Priscilla , Pall Karina , Lynn Richard , Calder Alistair , Mughal Zulf , Shaw Nicholas , McDonnell Ciara , McDevitt Helen , Blair Mitchell

Objectives: Rickets is a disease of growing children with potentially serious short and long-term complications. The United Kingdom (UK) national incidence of Nutritional Rickets(NR) is unknown and thought to be increasing. This study aims to describe the incidence, presentation and clinical management of children with NR in the UK and Republic of Ireland.Methods: Data is being collected prospectively monthly between March 2015 and March 2017 from 3500 p...

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ba0006p163 | (1) | ICCBH2017

Vitamin D insufficiency and inadequate bone mineral status in newcomer immigrant and refugee children in Canada

Vatanparast Hassan , Lane Ginny

Nutrition and physical activity are two main important factors influencing bone mineral mass accumulation during childhood and adolescence. Newcomer immigrant/refugee children are at a high risk of poor nutritional status. Vitamin D deficiency, in particular, and its related diseases is a major concern due to minimal sun exposure in countries in high latitude and limited dietary sources. Using Healthy Immigrant Children (HIC) polite data (n=72), we previously...

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ba0006p164 | (1) | ICCBH2017

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ba0006p165 | (1) | ICCBH2017

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ba0006p166 | (1) | ICCBH2017

Abstract withdrawn....

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ba0006p167 | (1) | ICCBH2017

Stable and functional osteosynthesis with intramedullary growing rods: results of surgical correction in eleven patients with systemic skeletal disease

Zyma Andrii , Guk Iurii , Martsynyak Stepan , Stewart David , Cheverda Andrii , Kincha-Polishchuk Tamara , Demyan Yuriy

Goal: The use of intramedullary telescopic constructs for osteosynthesis in surgical correction of bone deformities in children with systemic skeletal disease can be complicated by delayed bony union, and the structural and functional pathology of bone in patients with these disorders do not always make it possible to avoid displacement of bone fragments and effectively correct the deformity.Methods: Analysis of treatment of 11 patients of femoral and ti...

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ba0006p168 | (1) | ICCBH2017

Cortico-cancellous bone allografting in treatment of children with orthopedic diseases

Mikhovich Mikhail , Hlazkin Leanid , Kazlova Viktoryja

Objectives: Allografting is often used in the surgical treatment of skeletal deformities in childrens orthopedics. The aim of our study was to investigate the response of child bone tissue to the cortical and cortico-cancellous allografting, the dynamics of remodelling in various areas of the skeleton.Methods: Bone grafting was applied in 166 children over 3 years in the department of orthopedics and traumatology. 93 had foot deformities, 33 ...

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ba0006p169 | (1) | ICCBH2017

Orthopaedic management of leg length discrepancy in Proteus syndrome: a case series

Crenshaw Molly , Goerlich Cara , Ivey Lauren , Sapp Julie , Keppler-Noreuil Kim , Scott Allison , Biesecker Leslie , Tosi Laura

Background: Proteus syndrome (PS) is a rare mosaic disorder comprising asymmetric bony and soft tissue overgrowth leading to significant morbidity. Placement of guided growth hardware with subsequent epiphyseal arrest improves leg length and angular deformities in pediatric patients without PS.Presenting problem: The purpose of this study was to review the surgical approach and present outcomes, complications, and recommendations in eight patients with P...

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ba0006p170 | (1) | ICCBH2017

Physical activity is negatively correlated with circulating sclerostin in 6--12 year-old children

Stampoulis Theodoros , Leontsini Diamanda , Avloniti Alexandra , Draganidis Dimitrios , Papanikolaou Konstantinos , Chatzinikolaou Athanasios , Michalopoulou Maria , Vlachopoulos Dimitris , Gracia-Marco Luis , Makris Konstantinos , Tournis Symeon , Jamurtas Athanasios , Fatouros Ioannis , Kambas Antonis

Objectives: Bone mass development through childhood is very important for osteoporosis prevention during adulthood. Physical activity (PA) and/or exercise can influence positively bone matrix and its contents in pre-adolescents Sclerostin, a glycoprotein produced by osteocytes, promotes osteoclastic activity and it is associated with reduced bone formation. The purpose of this study was to describe the relationship between PA and sclerostin levels in pre-adolescent boys and gi...

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ba0006p171 | (1) | ICCBH2017

Review of lower limb range of movement following intramedullary fixation in children with Osteogensis Imperfecta

Marr Caroline

Osteogenesis Imperfecta (OI) is a genetic condition which alters collagen biosynthesis(1). Prevalence is estimated at 1 in every 15, 000 births. It is a disorder with a wide spectrum of severity, with cases ranging from the extremely mild to those of perinatal mortality. Typical features include bone fragility; short stature; long bone deformity and persistent blue sclera(2). Although currently there is no cure for OI, with the input of a multidisciplinar...

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ba0006p172 | (1) | ICCBH2017

Bone health at 11–12 years, physical activity and sedentariness: a cross-sectional Australian population-based study

Osborn William , Simm Peter , Olds Tim , Lycett Kate , Mensah Fiona , Muller Josh , Fraysse Francois , Ismail Najmi , Vlok Jennifer , Wake Melissa

Objectives: Activity duration and the daily patterns of activity during childhood and adolescence could contribute to long-term bone health. We examined cross-sectional associations between 11 and 12 year old childrens bone health and (1) durations, (2) patterns, and (3) combined durations and patterns of moderate-vigorous physical activity (MVPA) and sedentary behaviour.Methods: Design: Population-based cross-sectional study nested within...

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ba0006p173 | (1) | ICCBH2017

Results of surgical treatment of tibia deformity in patients with Campanaccis disease

Guk Yuriy , Zyma Andrii , Cheverda Andrii , Oliinyk Yuriy , Demyan Yuriy

Relevance of the study due to progressive and opportunity of Campanaccis disease to relapse after surgical treatment. Analysis of surgical treatment of seven patients with osteo-fibrous dysplasia of tibia (four male, three female) aged 217 years who performed 13 surgeries. Bone grafting after curettage residual cavities made in two of seven patients, including allografts used in one patient, ceramic hydroxyapatite Kerhap in two patients, with on...

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ba0006p174 | (1) | ICCBH2017

Maffucci syndrome – as an extremely rare form of Ollier disease

Molnar Inna , Guk Yuriy

Present a clinical case of Maffuchchi Syndrome and highlight its clinical and orthopedic features and differences from the Ollier disease Methods: Risk of secondary chondrosaroma higher at Maffuchchi syndrome 46%. Almost 100% extraskeletal malignant transformation compared to Ollier disease which, according to various estimates, is 543% of all cases. Maffuchchi syndrome is a rare (orphan) disease, and therefore not well known by scientists and practici...

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ba0006p175 | (1) | ICCBH2017

Management of Gorham disease in the cervicothoracic spine with mobile gravity traction and Sirolimus

Foster Paul , Mughal M. Zulf , Leong Julian , Jacobs Benjamin

Background: Gorham Disease is a rare condition characterised by massive osteolysis. The pathophysiology is related to angio/lymphatic proliferation within bone. No genetic transmission has been identified and onset occurs in patients of all ages. Surgical fixation of the spine may be unsuccessful due to progressive osteolysis of bone surrounding the metalwork, or of the bone graft.Presenting problem: An 11 year-old boy presented with a 2 year history of ...

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ba0006p176 | (1) | ICCBH2017

System epidermal nevus with hyperkeratosis and violations of bone tissue metabolism -- therapy of drug of pamidrinic acid and surgical orthopedic treatment. Case from practice

Cheverda Andrii , Guk Yurii , Zyma Andrii , Polishchuk Tamara Kincha , Demyan Yuriy , Shkurko Yuriy , Molnar Inna , Zotya Andrii

Introduction: System epidermal nevus with hyperkeratosis (SENHK) congenital epidermal formation characterized by hyperkeratosis, papillomatosis and acanthosis with elongation of intrapapillary epithelial strands. The main manifestations of metabolic bone disorders are system osteoporosis (SO) and violation of vitamin D metabolism. The urgency message is caused by a combination of the two above mentioned diseases in one patient.Methods: We present ...

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ba0006p177 | (1) | ICCBH2017

The elbow in type V osteogenesis imperfecta: is early functional loss related to radiographic findings?

Hill Claire , Offiah Amaka , Bishop Nick , Arundel Paul

Objectives: Type V osteogenesis imperfecta (OI) results in abnormal modelling of the ulna, dislocation of the radial head and interosseous membrane calcification (IOM). Individuals develop reduced functional ability as a consequence of reduced range of movement (ROM) including elbow flexion and/or supination, which may be intrinsic or secondary to the radiographic findings. We describe the evolution of radiographic and functional parameters in a cohort seen in our centre.<...

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ba0006p178 | (1) | ICCBH2017

Abstract withdrawn....

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ba0006p179 | (1) | ICCBH2017

Skeletal health of young patients with perinatal HIV infection: Experience from a reference center

Doulgeraki A. , Botsa E. , Lourida A. , Polizois G. , Monopolis I. , Spoulou V.

Objectives: There are conflicting data on the skeletal health of patients with perinatal HIV. We aimed to evaluate the bone profile of a paediatric population followed in a reference centre for perinatal HIV.Methods: The following data were recorded: dietary calcium intake, extra-curricular exercise, fracture history, medications and comorbidities. All patients were assessed for growth and skeletal deformities. They underwent laboratory tests:CD4 count, ...

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ba0006p180 | (1) | ICCBH2017

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ba0006p181 | (1) | ICCBH2017

Generalized arterial calcinosis of infancy: a case of a new mutation with central nervous system involvement and good response to bisphosphonates

Doulgeraki Artemis , Nika A. , Vakaki M. , Grigoriadou G. , Servos G. , Athanasopoulou H. , Katsieri K. , Kapetanakis I.

Background: Mutations in the ENPP1 gene have been identified in individuals with generalized arterial calcification of infancy (GACI), a life-threatening disorder characterized by calcification in the blood vessels, because of reduced availability of pyrophosphate. We describe a case of GACI due to a novel ENPP1 mutation.Presenting problem: The patient, born at term to non-consanguineous parents, was referred to us at birth with weak femoral pulses for e...

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ba0006p182 | (1) | ICCBH2017

Osteonecrosis results in significant long term morbidity in patients with acute lymphoblastic leukaemia

Amin Nadia , Feltbower Richard , Kinsey Sally , Vora Ajay , Mushtaq Talat , James Beki

Objectives: To determine the national prevalence, management and long term outcomes of patients who develop osteonecrosis after initiation of treatment for acute lymphoblastic leukaemia (ALL).Methods: The central trials unit for the leukaemia trial UKALL2003 identified patients with reported bone toxicity out of the 3126 patients recruited into the study. Questionnaires were sent to each relevant treatment centre requesting information about each patient...

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ba0006p183 | (1) | ICCBH2017

The treatment of severe pain in melorheostosis with daily walking program only: a case report

Akinci Aysehan , Dundar Ismail , Sigirci Ahmet

Bacground: Melorheostosis is a rare, non-familial and progressive disorder characterized by hyperostosis, of the cortical bone. Typical clinical symptoms include chronic pain, limitation of joint movement,and soft tissue ossification and hand or foot deformity. Radiographic findings are helpful in the diagnosis, these consist of irregular hyperostosis extending along the length of one side of the long bone,resembling flowing candle wax. Medications including non-steroid anti-i...

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ba0006p184 | (1) | ICCBH2017

Physical activity and health-related quality of life in patients with chronic non-bacterial osteomyelitis – pilot and model project in a rare inflammatory bone disease

Nentwich Julia , Holl-Wieden Annette , Morbach Henner , Girschick Hermann Josef , Ruf Katharina , Hebestreit Helge , Hofmann Christine

Objectives: Chronic non-bacterial osteomyelitis (CNO) is an inflammatory, non-bacterial disorder of the skeletal system of yet unknown etiology (ORPHA 324964). CNO predominantly affects the metaphyses of long bones, but lesions can occur at any sites of the skeleton. Patients present with local bone pain and inflammation and - to our experience - often suffer from functional impairment with significant disabilities of daily life. The objective of this study was to assess physi...

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ba0006p185 | (1) | ICCBH2017

Effects of vitamin D with calcium supplementation or zinc supplementation on the incidence of infections in school children: a randomized controlled trial

Mandlik Rubina , Ekbote Veena , Patwardhan Vivek , Chiplonkar Shashi , Khadilkar Vaman , Padidela Raja , Mughal Zulf , Khadilkar Anuradha

Objectives: Randomised controlled trials (RCTs) of vitamin D to reduce the incidence of infections among children have yielded variable results (Holland, 2012; Camargo, 2012). We performed a RCT of supplementation with vitamin D3 (cholecalciferol) along with calcium or supplementation with zinc in order to assess their effect on the incidence of infections in rural Indian school children.Methods: A double-blind, placebo-controlled RCT was conducted on 46...

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ba0006p186 | (1) | ICCBH2017

Is cherubism a systemic disease? Prospective study about 9 patients

Joly Aline , Maruani Gerard , Daire Valerie Cormier , Fauroux Brigitte , Berdal Ariane , Picard Arnaud , Coudert Amelie

Introduction: Cherubism is a rare pediatric disease with a maxillofacial localization caused by mutations of the SH3BP2 gene. Pathogenesis is well described in the Sh3bp2 KI mouse model that presents a systemic inflammatory and bone phenotypes maintained by TNFα and due to the presence of hypersensitive myeloid precursors. In human, the disease is usually described as a maxillofacial exclusive disease. The aim of our study was to explore the systemic phe...

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ba0006p187 | (1) | ICCBH2017

Acroosteolysis presenting as nail resorption

Natino Antonette , Vasanwala Rashida Farhad

Background: Acroosteolysis is a term used to describe bone resorption of the hands and toes. Typically involving distal phalanges, its causes may be hereditary, inflammatory, traumatic, toxin-mediated or idiopathic non-familial.Presenting problem: An 11-year old Chinese girl presented to the dermatology clinic with nail resorption of the left index finger for 1 year. She was previously well with no history of connective tissue disorders and no history of...

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ba0006p188 | (1) | ICCBH2017

Paradoxical response of serum parathyroid hormone concentration in response to vitamin D and calcium supplementation in undernourished Indian children

Mandlik Rubina , Ekbote Veena , Patwardhan Vivek , Kajale Neha , Khadilkar Vaman , Padidela Raja , Khadilkar Anuradha , Mughal Zulf

Objectives: We have previously described biochemical evidence of resistance to PTH in Indian toddlers, which reversed on calcium supplementation. We performed a post-hoc analysis on data from an RCT of vitamin D and calcium supplementation, which was designed to assess if supplementation would reduce infection rate in undernourished school children with adequate sun exposure. Specifically we investigated the effect of oral vitamin D and calcium supplementation on biochemical p...

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ba0006p189 | (1) | ICCBH2017

A deep phenotyping of autosomal dominant osteopetrosis type 2 (ADO2) mouse model revealed multiorgan dysfunctions

Maurizi Antonio , Capulli Mattia , Patel Rajvi , Rucci Nadia , Teti Anna

Objectives: ADO2 is a genetic bone disease induced by dominant negative mutations of the proton/chloride antiporter ClC7 encoded by the CLCN7 gene. In osteoclasts, ClC7 is crucial for lysosome function and resorption lacuna acidification. However, Clcn7 is expressed in several cell types in various organs, including brain, lungs, kidneys and spleen. Therefore, we asked whether Clcn7 mutations could affect other tissues beyond the bone.<p class="a...

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ba0006p190 | (1) | ICCBH2017

Development of an in vitro model of cancer stem cells from a rare human telangiectatic osteosarcoma

Palmini Gaia , Zonefrati Roberto , Romagnoli Cecilia , Aldinucci Alessandra , Galli Gianna , Mavilia Carmelo , Leoncini Gigliola , Simoni Antonella , Franchi Alessandro , Campanacci Domenico Andrea , Capanna Rodolfo , Brandi Maria Luisa

Objective: Even though recent studies have proved the presence of cancer stem cells (CSCs) in osteosarcoma (OSA), with this study, for the first time, the existence of CSCs in a rare high grade type of OSA, the telangiectatic osteogenic sarcoma (TOS), is showed.Methods: TOS sample was collected at the Ortopedia Oncologica e Ricostruttiva Unit, AOU Careggi, Florence, with informed consent approved by the local Ethical Committee. First of all, ...

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ba0006p191 | (1) | ICCBH2017

Juvenile hypophosphatasia presenting with short stature: a case report

Ersoy Betul , Atik Ozen

Background: Hypophosphatasia (HPP) is a heterogeneous disease; it can reveal itself at any age, through a wide range of symptoms. Findings of childhood (juvenile) HPP ranges from low bone mineral density for age with unexplained fractures to rickets, and premature loss of primary teeth with intact roots. We described a boy with the childhood form of hypophosphatasia presenting with short stature without rickets findings.Case report: An 11-year-old boy wa...

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ba0006p192 | (1) | ICCBH2017

Development of an osteogenesis imperfecta specific quality of life measure

Hill Claire , Baird Wendy , Walters Stephen

Objectives: Osteogenesis Imperfecta (OI) is a hereditary disorder effecting approximately 1 in 20 000 births. Symptoms include; low bone mass, recurrent fractures, varying degrees of short stature and deformity. There is currently no disease specific quality of life (QoL) measure for children with OI. This study used a mixed methods approach to develop a QoL measure for the paediatric OI population. Patient reported outcome measure development is an iterative process, moving b...

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ba0006p193 | (1) | ICCBH2017

Sheffield children's hospital osteogenesis imperfecta service: collaboration and care

Seasman Alison

Introduction: Osteogenesis imperfecta (OI) is a clinically heterogeneous heritable connective tissue disorder characterised by increased bone fragility and low bone density, resulting in frequent fractures from little or no trauma and bony deformities such as curvature of the long bones. Type and severity of OI is variable. OI affects the physical, social and emotional well-being of the child, young person and their family. The long term goal for children and young people with...

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ba0006p194 | (1) | ICCBH2017

Variable learning disability and behavioural difficulties in children with familial hypocalciuric hypercalcaemia type 3

Chinoy Amish , Skae Mars , Nicholson Jacqueline , Mughal Zulf , Padidela Raja

Background: Familial hypocalciuric hypercalcaemia type 3 (FHH3) is a genetically heterogenous autosomal dominant disorder caused by loss-of-function mutations in the AP2S1 gene. This gene encodes the alpha-2 subunit of the adaptor protein-2 complex, which facilitates endocytosis of plasma membrane constituents such as G-protein coupled receptors.Objective: It has been suggested that FHH3 may be associated with cognitive deficits (1). We assessed...

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ba0006p195 | (1) | ICCBH2017

Concentrated growth factor for the treatment of intrabony defects in chronic periodontitis in adolescents

Orbak Recep , Orbak Zerrin

Periodontitis is a health condition that involves inflammation of the periodontium, the supporting tissues, bones and ligaments around the teeth. In severe cases, the alveolar bone in the jaw area can become degraded and, without treatment, eventually lead to the loss of teeth. Periodontitis is the primary cause of tooth loss in adults. Regeneration of these tissues has become the most vital aim of periodontal surgery. For this situation, bone greft, syntetic materials and gro...

1 shares

ba0006p196 | (1) | ICCBH2017

A qualitative enquiry examining the lived experience of mothers who have children with osteogenesis imperfecta

Marr Caroline

Osteogeneses Imperfecta (OI) is a skeletal dysplasia which affects collagen biosynthesis. As with other chronic conditions it is recognised that the heterogeneity of perspectives between parents and health care professionals (HCP) can alter the course of a childs health outcomes irrespective of the childs disease. This qualitative study was employed to explore a mothers lived experience of having a child with OI.Objectives: To gain impr...

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ba0006p197 | (1) | ICCBH2017

Financial burden in families of children with osteogenesis imperfecta (OI)

Murphy Anne , Howard Andrew , Sochett Etienne , Harrington Jennifer

Background: Families of children with Osteogenesis Imperfecta (OI) make costly modifications to their home, lifestyle and employment and incur costs of rehabilitative, preventative and adaptive care for their child. While parents have readily identified that these costs are financially burdensome, the degree of financial burden has not yet been described in families of children with OI.Objectives: To evaluate the out of pocket, OI related expenses (ExpOI...

6 shares

ba0006p198 | (1) | ICCBH2017

Hearing the patient's voice: a focus group listening to the child and parent experiences of living with rare bone diseases

Massey Jill , Phillips Katie , Cornish Michael , Lawson Caron , Irving Melita , Cheung Moira

Objectives: • To establish the child and family experience of attending multi-disciplinary clinics within the rare bone disease service at Evelina London Childrens Hospital.• To gain an understanding of the daily challenges the children, young people and families face.• To understand how the tertiary multi-disciplinary team may support the child, young person and family.<p class="ab...

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ba0006p199 | (1) | ICCBH2017

Validation of questionnaire for measurement of sunlight exposure in children from Pune, India

Mandlik Rubina , Ekbote Veena , Kajale Neha , Patwardhan Vivek , Vispute Smruti , Kirtikar Utkarshini , Jaiswal Anjali , Ladkat Dipali , Palande Sonal , Deshpande Pranati , Michael Natasha , Deshpande Varsha , Vartak Varsha , Chiplonkar Shashi , Khadilkar Vaman , Padidela Raja , Mughal Zulf , Khadilkar Anuradha

Objective: Although there is adequate sunlight throughout the year, low serum 25OHD concentrations are being increasingly reported among Indian children (Gupta, 2014). Thus, quantifying individual sunlight exposure may be an important step in understanding hypovitaminosis D in sun-rich geographies. The objectives of our study were to quantify the sunlight exposure of school-children using a questionnaire and to use polysulphone film badges to validate the questionnaire adminis...

2 shares

ba0006p200 | (1) | ICCBH2017

The platform of expertise for rare diseases Paris-Sud: an innovative model for gathering reference centers and improving care for rare diseases

Usardi Alessia , Henry Charlotte , Habib Christophe , Fernandez Isabelle , Debza Yahya , Darce Martha , Stoeva Radka , Labrune Philippe , Linglart Agnes

Introduction: The platform of expertise for rare diseases Paris-Sud is an organization created at the end of 2014. It brings together 21 reference centers for rare diseases of the university hospitals Paris-Sud, 12 diagnostic and research laboratories, a biological resource center and several patient associations.Methods: A multidisciplinary team (a communication officer, a bio-informatician, a geneticist, clinical research associates, an administrative ...

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ba0006p201 | (1) | ICCBH2017

Posture cushions impact on spinal alignment in children with osteogenesis imperfecta – true or false?

Seasman Alison

Background: Osteogenesis imperfecta (OI) is a rare skeletal disorder characterised by bone fragility usually due to inherited mutations in the genes for type 1 collagen. Children with OI present with numerous physical manifestations due to ligamentous laxity and bone fragility (1).Presenting problem: Poor posture and associated back pain is a common problem for many children with mild to moderate OI. Hypermobility can result in muscle imbalance which may...

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ba0006p202 | (1) | ICCBH2017

Osteosarcoma-derived Extracellular Vesicles induce tumoral-like phenotypes in normal cells

Urciuoli Enrica , Peruzzi Barbara

Objectives: Osteosarcoma is the most common primary bone cancer and most frequent cause of cancer-related deaths in children and adolescents. Osteosarcoma cells are able to establish a crosstalk with resident bone cells leading to the formation of a deleterious vicious cycle. We hypothesized that osteosarcoma cells can release in the bone microenvironment transforming Extracellular Vesicles (EVs) involved in regulating the bone cell proliferation and differentiation, thereby p...

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ba0006p203 | (1) | ICCBH2017

Neurofibromatosis type 1 (NF1) associated congenital pseudarthrosis of the Tibia and Fibula misdiagnosed as non-accidental injury (NAI)

Mughal M Zulf , Ali Farhan , Santos Rui , Vassallo Grace , West Siobhan , Howard Elizabeth , Eelloo Judith , Hupton Eileen , Rowles Elizabeth , Huson Susan M

Background: Congenital tibial pseudarthrosis (CTP) presents with anterolateral bowing of the lower leg in infancy, which often progresses to fracture and non-union (pseudarthrosis). CTP occurs in 23% of children with NF1. The distal end of the fibula and other long bones can also be affected.Objective: We describe three children in whom NF1 related congenital tibial or fibular pseudarthrosis was initially misdiagnosed as NAI....

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ba0006p204 | (1) | ICCBH2017

Is a modified version of the Childhood Health Assessment Questionnaire (CHAQ) a useful tool to identify the level of disability in children with osteogenesis imperfecta?

Ball Suzanne , Roberts Marie , Saraff Vrinda , Sakka Sophia , Shaw Nick , Hogler Wolfgang

Objectives: Different versions of the Childhood Health Questionnaire (CHAQ) have been used in Paediatric Rheumatology since 1994 to establish levels of functional disability. To date, use of the CHAQ has not been reported in Osteogenesis Imperfecta (OI). The aim of this study was to establish if disability scores generated from a modified CHAQ (MCHAQ) correlate with OI severity.Methods: The MCHAQ was developed to reflect the specific needs of children wi...

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ba0006p205 | (1) | ICCBH2017

Osteopathologies and endocrine late effects in a cohort of 102 juvenile survivors of brain tumors

Schundeln Michael , Fritzemeier Sebastian , Hauffa Pia , Bauer Jens , Hauffa Berthold , Grasemann Corinna

Objectives: Endocrine late effects, including osteopathologies, following diagnosis and treatment of childhood malignancies are studied in adult survivors with alarming results. However, in pediatric patients with brain tumors the risk to develop endocrine late effects is high even during childhood and adolescence.Aim and design: To investigate osteopathologies and endocrine function in juvenile survivors of pediatric brain tumors we conducted a cross-se...

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ba0006p206 | (1) | ICCBH2017

Lysinuric protein intolerance associated with vertebral fractures and IGF-I deficiency

Cottrell Emily , Mushtaq Talat

Background: Lysinuric Protein Intolerance (LPI) is a rare autosomal recessive metabolic disorder affecting amino acid transport. The condition typically presents at weaning, with recurrent diarrhoea and vomiting especially following protein rich meals. It may have a multisystem clinical presentation including growth and haematological abnormalities and rarely osteoporosis. The diagnosis is based on biochemical findings, including increased urine and reduced plasma concentratio...

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ba0006p207 | (1) | ICCBH2017

Bone turnover in the obese children is related to gender, body compo-sition and leptin level

Matusik Pawel , Olszanecka-Glinianowicz Magdalena , Chudek Jerzy , Matusik Edyta , Malecka-Tendera Ewa

Introduction: Recently published data revealed that bone turnover is related to the body composition in pubertal children and may be impaired in obese adolescents. The aim of the study was to determine the relationship between bone turnover markers, body composition and leptin level in obese children.Material and methods: In 54 obese adolescents (25 boys and 29 girls) in the mean age of 13.96±2.78 years bone turnover markers osteocalcin (OC),...

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ba0006p208 | (1) | ICCBH2017

Social barriers and needs of children with osteogenesis imperfecta (OI): a qualitative descriptive interview-based study

Konstantynowicz Jerzy , Abramowicz Pawel

Objective: Osteogenesis imperfecta (OI) which is a heterogenic group of diseases presenting with bone fragility, skeletal deformations and limited mobility may confer a risk of several non-skeletal health issues and is associated with adaptational social problems. The aim of the qualitative descriptive study was to determine the most important areas (problems?) related to social functioning, familial environment, hospital amenities and social needs in children with OI.<p c...

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ba0006p209 | (1) | ICCBH2017

Intensive therapy – a week of multi-disciplinary intervention at Sheffield Children's Hospital: An example of goal setting and positive outcomes

Knowles Elizabeth

Patients with moderate to severe osteogenesis imperfecta commonly have functional difficulties following fractures or surgery, which generally result in long periods of immobility. Patients quickly lose range of movement, muscle strength and conditioning, which impacts on daily living activities, mobility, self-confidence and motivation. It is natural for patients to become more dependent on their carers, some not returning to their previous level of independence, nor achievin...

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