Bone Abstracts

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...

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...