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.
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