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
 
Relation
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https://sajr.org.za/index.php/sajr/article/view/261/324 https://sajr.org.za/index.php/sajr/article/view/261/323 https://sajr.org.za/index.php/sajr/article/downloadSuppFile/261/272 https://sajr.org.za/index.php/sajr/article/downloadSuppFile/261/273 https://sajr.org.za/index.php/sajr/article/downloadSuppFile/261/274 https://sajr.org.za/index.php/sajr/article/downloadSuppFile/261/275 https://sajr.org.za/index.php/sajr/article/downloadSuppFile/261/276
 
Coverage South Africa
Rights Copyright (c) 2012 Shahida Moosa https://creativecommons.org/licenses/by/4.0
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