Polydactyly: a study of four generations of a Turkish family including an affected member with bilateral cleft lip and palate.

摘要

Polydactyly is one of the most common congenital deformities of the hands. It can occur as an isolated disorder, in association with other malformations of the hands or feet, or as part of a syndrome. It can occur sporadically but it can also be inherited with a mainly autosomal dominant inheritance. We present a Turkish family with affected members in four generations. Bilateral duplication of the second digit in both hands and feet with 24 digits in total was the most common pattern, but one affected member had 26 digits: seven on each hand and six on each foot. In addition, another affected member had complete bilateral cleft lip and complete cleft palate combined with bilateral hand and foot polydactyly without any syndromic association. The pedigree of the affected members of this family suggests an autosomal dominant mode of inheritance, but genetic expression is variable.