A lethal syndrome resembling branchio-oculo-facial syndrome.

Branchio-oculo-facial syndrome, a recently delineated autosomal dominant condition, is characterized by branchial cleft sinuses, ocular anomalies, and unusual facial appearance. A patient with branchial cleft fistulae, microphthalmia, nasomaxillary dysplasia, in addition to cardiac and CNS malformation (holoprosencephaly and meningo-encephalocele), is described. Although many features of this lethal malformation complex resemble those seen in the branchio-oculo-facial syndrome, the complex may represent a new multiple malformation syndrome.