A new syndrome of triphalangeal thumbs and brachy-ectrodactyly.
Two Mexican families in which a total of 17 persons exhibited the same pattern of limb malformations are described. The syndrome is characterized by triphalangeal thumbs and brachydactyly affecting the index fingers and the third toes. The clinical findings are variable and the inheritance is autosomal dominant. The syndrome, to the best of our knowledge, has not been described before.
D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D000013:Congenital Abnormalities / Q000235:genetics*; D005260:Female; D005385:Fingers / Q000002:abnormalities / Q000000981:diagnostic imaging; D005799:Genes, Dominant; D006801:Humans; D017880:Limb Deformities, Congenital; D008297:Male; D008800:Mexico; D010375:Pedigree; D011859:Radiography; D013577:Syndrome; D013933:Thumb / Q000002:abnormalities; D014034:Toes / Q000002:abnormalities / Q000000981:diagnostic imaging