Triphalangeal thumb (TPT) is a rare congenital disorder characterised by a long, finger-like thumb with three phalanges instead of two. It can occur as an isolated defect, in association with other abnormalities of the hands and feet, or as a part of a syndrome. Sporadic cases have been described, but it is usually inherited as an autosomal dominant trait. In order to examine skeletal morphology in different phenotypic variations of this disorder, we performed metacarpophalangeal pattern profile analysis in one kindred with this disorder. A characteristic profile occurred in all affected people, based on the individual lengthening or shortening of the thumb bones. Comparison of the affected and unaffected people from this family with people with a different genetic background suggests that the described profile is specific for TPT and could be used as a helpful diagnostic tool in syndromes which include TPT.
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