Perinatal lethal osteogenesis imperfecta

SA Journal of Radiology

Field Value
Title Perinatal lethal osteogenesis imperfecta
Creator Moosa, Shahida
Subject Medical Genetics; Radiology Lethal osteogenesis imperfecta Skeletal dysplasia
Description Osteogenesis imperfecta (OI) is a heterogeneous group of genetic bone disorders that are characterised by decreased bone mass, increased bone fragility and susceptibility to fractures. The severe, perinatal lethal form (Type II) (OMIM 166210) is characterised by bone fragility, with perinatal fractures, severe bowing of long bones, undermineralisation, and death in the perinatal period owing to respiratory insufficiency. The overall prevalence of OI Type II is unknown. There are three subtypes of OI Type II (A, B and C) that are characterised by different radiological features, and may be caused by different genetic faults. Two fetuses with OI Type IIA are presented.
Publisher AOSIS
Date 2012-11-28
Type info:eu-repo/semantics/article info:eu-repo/semantics/publishedVersion —
Format text/html application/pdf
Identifier 10.4102/sajr.v16i4.261
Source South African Journal of Radiology; Vol 16, No 4 (2012); 141-142 2078-6778 1027-202X
Language eng
The following web links (URLs) may trigger a file download or direct you to an alternative webpage to gain access to a publication file format of the published article:
Coverage South Africa
Rights Copyright (c) 2012 Shahida Moosa