Type A2 brachydactily: report of a new family.
A new family with the A2 type brachydactily is described. It is the first one observed in Italy and the sixth of the world literature. Brachymesophalangy of index fingers and/or second toes is the typical osseous malformation which was present in 14 individuals from 4 generations. The defect is transmitted by an autosomal dominant gene with high penetrance and variable expressivity.
D000013:Congenital Abnormalities / Q000000981:diagnostic imaging / Q000235:genetics*; D005385:Fingers / Q000002:abnormalities*; D005799:Genes, Dominant; D006801:Humans; D010375:Pedigree; D011859:Radiography; D014034:Toes / Q000002:abnormalities*