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 | |
| 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 | |
| Identifier | 10.4102/sajr.v13i1.535 | |
| Source | South African Journal of Radiology; Vol 13, No 1 (2009); 16 2078-6778 1027-202X | |
| Language | eng | |
| Relation |
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:
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
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