Sex-influenced expression of Madelung's deformity in a family of dyschondrosteosis.
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.
D000328:Adult; D002648:Child; D005799:Genes, Dominant; D006801:Humans; D008297:Male; D010007:Osteochondritis / Q000235:genetics; D010009:Osteochondrodysplasias / Q000235:genetics*; D010375:Pedigree; D012730:Sex Chromosomes; D013577:Syndrome; D014953:Wrist / Q000002:abnormalities*