Searchable abstracts of presentations at key conferences on calcified tissues

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...

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...

ba0002p177 | (1) | ICCBH2013

The bone mineral density of children with CF

Roddy Marie , Elnazir Basil , McDonnell Ciara , Nadeem Montaseur , Greally Peter

Objectives: Low bone mineral density (BMD) is reported frequently in adult cystic fibrosis (CF) patients but the data is less consistent for children and adolescents. The aim of our study is to describe bone mineral density (BMD) in a group of children over a period of 10 years and to determine if BMD is related to vitamin D level, calcium intake, lung function, height and age.Methods: A retrospective review of 123 DXA scans conducted in 50 children with...

ba0002p184 | (1) | ICCBH2013

High FGF23 measurements in a child with vitamin D dependent rickets type I: cause or consequence?

McDonnell Ciara , Treston Bryony , Murphy Nuala , Kilbane Mark , McKenna Malachi

Background: Defects in 1-α-hydroxylase enzyme activity result in reduced activity of 1,25(OH)2D causing vitamin D dependent rickets. Physiologically FGF23 levels are stimulated by a rise in 1,25(OH)2D which in turn suppresses 1-α-hydroxylase expression to complete the feedback loop.Presenting problem: A 15-month-old Irish Caucasian girl was referred by her GP for failure to weight bear. She was born at term via elective se...

ba0007p48 | (1) | ICCBH2019

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

Burke Eleanor , ODonnell Gillian , McCarron Laura , McDonnell Ciara

Background: Genetic advances have led to the identification of 14 genes implicated in Osteogenesis imperfecta [OI], encompassing 96–98% of cases. Hallmark features of osteogenesis imperfecta include fractures from minimal trauma, bowing of the legs and growth retardation. Non-skeletal features include blue sclera, dentinogenesis imperfecta, hearing and refractory visual deficits, pulmonary dysfunction and cardiac valvular malformations. Classical radiographic features are...

ba0007p123 | (1) | ICCBH2019

Odontochondrodysplasia in association with a TRIP11 mutation

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

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

ba0002p183 | (1) | ICCBH2013

Juvenile idiopathic osteoporosis: a case study

McDonnell Ciara , Gibbons Catherine , Murphy Nuala , Kilbane Mark , van der Kamp Susan , McKenna Malachi

Background: This case illustrates the longitudinal improvements quantified by serial bone mineral density scans in an adolescent female with juvenile idiopathic osteoporosis treated with pamidronate.Presenting problem: The girl in question presented at 11 years and 10 months with a 5-month history of increasing back pain. A MRI scan prior to referral had indicated vertebral collapse and osteopenia. She had no medical, social or developmental history of n...

ba0007p125 | (1) | ICCBH2019

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

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

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

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;26:1–16). Currently, the data on ...

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...