title: Congenital familial hypoplastic thumb associated with congenital amputation of the toe.
abstract: A family with congenital hypoplastic thumb ( Blouth type 1) associated with congenital amputation of the first toe is reported. An 18-year-old woman and her mother had the same congenital anomalies: hypoplastic thenar muscles, congenital amputation of the first toe, slight web formation between second and third toes, and brachymesophalangia 2 and 5. There were no associated cardiovascular defects. They have a characteristic metacarpophalangeal pattern profile. This is believed to be the first such case report in the medical literature.
mesh_terms: D000293:Adolescent; D005260:Female; D005385:Fingers / Q000002:abnormalities; D006801:Humans; D010375:Pedigree; D013933:Thumb / Q000002:abnormalities*; D014034:Toes / Q000002:abnormalities*