Leri-Weill dyschondrosteosis: An under-recognised cause of short stature

SA Journal of Radiology

Field Value
Title Leri-Weill dyschondrosteosis: An under-recognised cause of short stature
Creator Lemire, E G Wiebe, S
Subject Pediatrics; Radiology; Genetics X-Ray; Short Staure; Madelung
Description Short stature is a frequent presenting problem in the pediatric population. Various causes including endocrinopathies, skeletal dysplasias, dysmorphic syndromes and malabsorption have been implicated. In girls with short stature, Turner syndrome is frequently considered in the differential diagnosis and can easily be ruled out with chromosome analysis. However, it is not uncommon for a child to have no identifiable cause of their short stature. ?FOR Advances in the field of genetics have estimated that about 2% of idiopathic short stature is related to haploinsufficiency of the Short stature homeobox (SHOX) gene, which is found on the short arm of the X and Y chromosomes in the pseudoautosomal region. Heterozygous carriers of SHOX mutations may be minimally affected or may present with disproportionate short stature, Madelung deformity and other radiographic findings as in Leri-Weill dyschondrosteosis (LWD). In this article, we report on a 14-year old girl with mesomelic short stature and bilateral Madelung deformities caused by LWD and describe the radiographic findings.
Publisher AOSIS
Date 2009-03-30
Type info:eu-repo/semantics/article info:eu-repo/semantics/publishedVersion — Case Report
Format application/pdf
Identifier 10.4102/sajr.v13i1.535
Source South African Journal of Radiology; Vol 13, No 1 (2009); 16 2078-6778 1027-202X
Language eng
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https://sajr.org.za/index.php/sajr/article/view/535/672 https://sajr.org.za/index.php/sajr/article/downloadSuppFile/535/1079 https://sajr.org.za/index.php/sajr/article/downloadSuppFile/535/1080
Coverage N/A Children
Rights Copyright (c) 2009 E G Lemire, S Wiebe https://creativecommons.org/licenses/by/4.0