A Case of Familial Polydactyly From Turkey

Abstract

Polydactyly is among the most frequently encountered congenital anomalies of the extremities. Although it is usually presented in an isolated and sporadic manner, familial cases can also be rarely encountered. Such familial polydactyly cases usually follow an autosomal dominant inheritance with variable genetic penetration and are usually bilateral and symmetric. A case of rare familial polydactyly from Turkey is presented. Four siblings, two girls and two boys, presented with bilateral, symmetric preaxial polydactyly affecting both hands and feet. These siblings also had four other unaffected siblings along with an affected father and grandmother (the father’s mother). Although the cases portrayed duplication at different levels, the general definition of familial polydactyly with bilateral, symmetric inheritance is observed in these cases. Other rare familial polydactyly cases have been reported in the literature as well, and this case serves as a typical example of this rare entity from Turkey.

Keywords

• Familial polydactyly
• inheritance pattern