Greig cephalopolysyndactyly syndrome in a family.

Abstract

We report on two cases (daughter and father) with Greig cephalopolysyndactyly syndrome (GCPS). The clinical manifestations in craniofacial structure, hands and feet are described. We found marked phenotypic variability in these family members with GCPS over the hands and feet. Our patients were seen to have higher rate of feet postaxial polydactyly both clinically and radiologically; they had lower rate of clinical postaxial polydactyly over hands, with feet preaxial polydactyly both clinically and radiologically compared to previous review articles covering 52 cases. Multiple linkage analysis showed one proposita's parental mutant allele was transmitted to the proposita when using linkage mapping set spanning 7p. Some review of the literature is also given, with emphasis on the clinical signs and symptoms of the Greig cephalopolysyndactyly syndrome.