Bone Abstracts

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...

Cole-Carpenter syndrome (CCS) is commonly classified as a rare Osteogenesis Imperfecta disorder. This was following the description of two unrelated patients with very similar phenotypes who were subsequently shown to have a heterozygous missense mutation in P4HB. Here, we report a 3-year old female patient who was diagnosed with a severe form of OI. Exome sequencing identified the same missense mutation in P4HB as reported in the original cohort, thus reinfo...

Background: Osteogenesis imperfecta (OI), the commonest inherited bone fragility disorder, affects 1/15,000 live births resulting in frequent fractures and reduced mobility, with significant impact on quality of life. Early diagnosis is important, as therapeutic advances can lead to improved clinical outcomes.Methodology and results: Trio whole exome sequencing in patients with OI identified, in two patients, compound heterozygous mutations in NBAS</...