Two sibs with microcephaly, hygroma colli, renal dysplasia, and cutaneous syndactyly: a new lethal MCA syndrome?

We report two sibs of Turkish descent with multiple congenital anomalies in cluding severe microcephaly, hygroma colli, cystic renal dysplasia, and bil ateral cutaneous syndactyly of toes IV-V. In addition, the second sib prese nted with bilateral fusion of the eyelids, a bicornuate uterus, and clitoro megaly. The parents are first cousins, which suggests autosomal recessive i nheritance. In reviewing previously published reports, several cases were f ound with cerebral, renal, and digital anomalies as the main features. Seve ral of the additional symptoms present in the second sib were suggestive of Fraser syndrome, but the severe microcephaly in both sibs is unusual. The differential diagnosis is discussed, including the possibility of an entire ly new entity in the broad spectrum of syndromes with cerebral, renal, and digital anomalies.