The hand-foot-uterus syndrome: a case study.
An autosomal dominant syndrome is described in 26 members of six generations in a single family. Distal extremity malformations are characteristic and superficially resemble those of arthrogryposis, chondroectodermal dysplasia, Cornelia de Lange syndrome, Faconi's anemia or Holt-Oram syndrome. There is an absence of spinal deformity, and females of the disorder have duplication of the genital tract.
D000015:Abnormalities, Multiple / Q000235:genetics*; D005260:Female; D005528:Foot / Q000000981:diagnostic imaging; D005532:Foot Deformities, Congenital; D006225:Hand / Q000000981:diagnostic imaging; D006228:Hand Deformities, Congenital; D006801:Humans; D008875:Middle Aged; D010375:Pedigree; D011859:Radiography; D013577:Syndrome; D014599:Uterus / Q000002:abnormalities*