Pseudoachondroplasia: Report on a South African family

SA Journal of Radiology

Field Value
Title Pseudoachondroplasia: Report on a South African family
Creator Moosa, Shahida Nishimura, Gen
Subject Medical Genetics; Radiology Pseudoachondroplasia; skeletal dysplasia
Description Pseudoachondroplasia is an autosomal dominant skeletal dysplasia that results in disproportionately short stature, severe brachydactyly with strikingly lax small joints, malalignments of the lower limbs, and characteristic radiological features. Although named ‘false achondroplasia’, the entity is a distinct condition, in which affected individuals are born with normal length and have a normal facies, but is often only recognised after the age of 2 years, when the disproportion and waddling gait become evident. We report on an affected South African father and daughter, and highlight their clinical and radiographic features.
Publisher AOSIS
Date 2013-06-11
Type info:eu-repo/semantics/article info:eu-repo/semantics/publishedVersion — —
Format text/html application/pdf
Identifier 10.4102/sajr.v17i2.247
Source South African Journal of Radiology; Vol 17, No 2 (2013); 65-67 2078-6778 1027-202X
Language eng
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Coverage South Africa — —
Rights Copyright (c) 2013 Shahida Moosa, Gen Nishimura