Ectrodactyly ectodermal dysplasia clefting (EEC) syndrome: dominant inheritance and variable expression

Abstract

An infant is reported with a complete form of the ectrodactyly ectodermal dysplasia clefting (EEC) syndrome, inherited from his mother, who has a partial expression of the condition, without clefting. This observation stresses the phenotypic variability of the EEC syndrome, which in most cases is inherited as an autosomal dominant with reduced penetrance.