[Clinical variations in Léri-Weill dyschondrosteosis].
A newborn male baby and two female relative with the Leri Weill's syndrome are described. The disease is a mesomelic dwarfism with mild to moderate shortness of stature and typical radiological deformation know as Madelung's deformity. In a family in which one or more individuals have typical disease, a relative with simple Madelung's deformity would be considered as affected.
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Hospital Municipal de San Miguel, Provincia de Buenos Aires, República Argentina.
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D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging / Q000235:genetics*; D000328:Adult; D003394:Craniofacial Dysostosis / Q000000981:diagnostic imaging / Q000235:genetics; D004392:Dwarfism / Q000000981:diagnostic imaging / Q000235:genetics*; D005260:Female; D005542:Forearm / Q000002:abnormalities / Q000000981:diagnostic imaging; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D010009:Osteochondrodysplasias / Q000145:classification* / Q000000981:diagnostic imaging / Q000235:genetics; D011859:Radiography; D013577:Syndrome
Variaciones clínicas en la discondrosteosis de Leri-Weill.