Familial congenital hypoplasia of the thumb--report on a family.
Congenital hypoplasia of the thumb is not a rare condition in clinical practice, but a familial occurrence of this condition is exceedingly rare. We report a family with familial congenital hypoplasia of the thumb. In three generations, five members were proved to be affected and another two were presumed to be affected. To our surprise, a younger sister of the propositus had tetralogy of Fallot and triphalangeal thumbs on both hands.
D000328:Adult; D002648:Child; D005260:Female; D030342:Genetic Diseases, Inborn; D006801:Humans; D007223:Infant; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D013933:Thumb / Q000002:abnormalities*