Dyschondrosteosis and Madelung's deformity. Report of three kindreds and review of the literature.
Dyschondrosteosis is a syndrome of Madelung's deformity, mesomelia and mild short stature that is transmitted by autosomal dominant inheritance. Most examples of Madelung's deformity are due to Dyschondrosteosis. Three affected kindreds are described, two having radiographically proven male to male transmission. A possible association with mental retardation has been postulated on the basis of its presence in four of eleven affected individuals in three kindreds. Dyschondrosteosis exhibits little functional impairment or cosmetic deformity suggesting that therapy is usually unnecessary.
D000293:Adolescent; D001827:Body Height; D002648:Child; D002675:Child, Preschool; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D008297:Male; D010009:Osteochondrodysplasias / Q000000981:diagnostic imaging / Q000235:genetics*; D011859:Radiography; D011884:Radius / Q000002:abnormalities / Q000000981:diagnostic imaging; D013577:Syndrome; D014457:Ulna / Q000002:abnormalities; D014953:Wrist / Q000002:abnormalities*