Madelung deformity--the hallmark of dyschondrosteosis.
نویسندگان
چکیده
1314 deformity with mesomelic dwarfism of both upper and lower limbs. It is. the commonest variety of mesomelic dwarfism(3). Madelung deformity may also be seen associated with diverse disorders such as mucopolysaccharidosis, Turner's syndrome, achondroplasia, dyschondroplasia (Ollier's disease), multiple exostosis and multiple epiphyseal dysplasia. Madelung's original description of the lesion befits its restriction to Dyschondrosteosis (2).
منابع مشابه
A Leri-Weill dyschondrosteosis patient confirmed by mutation analysis of SHOX gene
Leri-Weill dyschondrosteosis is characterized by SHOX deficiency, Madelung deformity, and mesomelic short stature. In addition, SHOX deficiency is associated with idiopathic short stature, Turner syndrome, and Langer mesomelic dysplasia. We report the first case of a Leri-Weill dyschondrosteosis patient confirmed by SHOX gene mutation analysis in Korea. The patient, who was a 7-year-old female,...
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Dyschondrosteosis is a mesomelic form of short stature which occurs in conjunction with a characteristic wrist deformity. Madelung's deformity. A family with dyschondrosteosis had an affected father and two daughters. The affected females had dyschondrosteosis and Madelung's deformity, while the affected males had dyschondrosteosis, but no Madelung's deformity. All affected members had arthralg...
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Recent years have seen the emergence and identification of a large number of genes responsible for constitutional bone diseases. Among these, congenital syndrome or the Leri weill dyschondrosteosis is important which includes a wide spectrum of disease ranging from Langer mesomelic dysplasia, the most severe phenotype to the isolated Madelung deformity This condition is caused by a mutation or ...
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SHOX haploinsufficiency due to mutations in the coding exons or microdeletions involving the coding exons and/or the enhancer regions accounts for approximately 80% and 2-16% of genetic causes of Leri-Weill dyschondrosteosis and idiopathic short stature, respectively. The most characteristic feature in patients with SHOX deficiency is Madelung deformity, a cluster of anatomical changes in the w...
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Mutations or deletions of the SHOX gene, located in the PAR1 region, are involved in idiopathic growth retardation. The SHOX gene escapes X inactivation in females. The growth failure of Turner Syndrome (X0) females is most likely the result of the presence of only one SHOX gene copy in each diploid cell (haploinsufficiency). The tall stature observed in Klinefelter (XXY) syndrome and in Triple...
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عنوان ژورنال:
- Indian pediatrics
دوره 32 12 شماره
صفحات -
تاریخ انتشار 1995