New case of an EEC-like syndrome in twins

Abstract

A patient wrongly referred as a posible victim of thalidomide showed the three classical cardinal features of the EEC syndrom, plus severe mental retardation, an unusual finding in this condition. His twin brother was similarly affected, and died at four months of age due to complications caused by the malformations. Their normal parents were first cousins. The concordance of the manifestation in the twins and the parents' consanguinity suggest that they had the recessive form of the EEC syndrome.