A lethal syndrome resembling branchio‐oculo facial syndrome

Hing AV, Torack R, Dowton SB. A lethal syndrome resembling branchio‐oculo‐facial syndrome. Clin Genet 1992:41: 74–78. Branchio‐oculo‐facial syndrome, a recently delineated autosomal dominant condition, is characterized by branchial cleft sinuses, ocuiar 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.