Sex-influenced expression of Madelung's deformity in a family of dyschondrosteosis.
نویسندگان
چکیده
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 arthralgias. The occurrence of male to male transmission confirms an autosomal dominant inheritance pattern for this disorder.
منابع مشابه
Madelung deformity--the hallmark of dyschondrosteosis.
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...
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A 21-yr old lady presented with primary amenorrhea and short stature for evaluation. She had a wide carrying angle (Cubitus valgus) and a typical deformity at the wrist joint (Fig. 1) which was evaluated. There were no other dysmorphic features. She was found to have high serum FSH and low serum estradiol with streak gonads on ultrasound. Karyotype was 45 XO. She was diagnosed to have Turner’s ...
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BACKGROUND We studied an unusual combination of severe short stature, mesomelia (Leri-Weill dyschondrosteosis syndrome), and multiple exostosis in several family subjects over three generations. The pattern of inheritance was compatible with autosomal dominant. METHODS Of 21 affected members over three generations, shortness of stature, associated with mesomelia resembling Leri-Weill dyschond...
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ورودعنوان ژورنال:
- Journal of medical genetics
دوره 17 1 شماره
صفحات -
تاریخ انتشار 1980