Osteogenesis imperfecta type II in one of a pair of twins.
نویسندگان
چکیده
variety of biochemical defects in type I procollagen resulting in disruption of triple helical conformation and procollagen suicide are responsible for the clinical features(2). Some cases are autosomal recessivtf but many are new dominant mutations. A large majority of patients die in early neonatal period or infancy but the incidence in general population is kept constant as a result of new mutations. It has been estimated that the mutation rate in osteogenesis imperfecta is 4 x 10 per gene per generation(3). The occurrence of osteogenesis imperfecta in one of a pair of twins would be a rare chance association. On extensive review of literature we could come across only two such reports(4,5). The purpose of this communication is to describe our experience of such a case, emphasize the inclusion of long bone evaluation in the 'routine' antenatal ultrasound examination and raise the management dilemma posed by such a situation.
منابع مشابه
Next-Generation Sequencing Reveals One Novel Missense Mutation in COL1A2 Gene in an Iranian Family with Osteogenesis imperfecta
Background: Osteogenesis imperfecta (OI) is a clinically and genetically heterogeneous disorder characterized by bone loss and bone fragility. The aim of this study was to investigate the variants of three genes involved in the pathogenesis of OI. Methods: Molecular genetic analyses were performed for COL1A1, COL1A2, and CRTAP genes in an Iranian family with OI. The DNA samples were analyzed by...
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ورودعنوان ژورنال:
- Indian pediatrics
دوره 31 11 شماره
صفحات -
تاریخ انتشار 1994