title: A lethal syndrome resembling branchio-oculo-facial syndrome.
abstract: 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.
authors.affiliation: Edward Mallinckrodt Department of Pediatrics, Washington University School of Medicine, St. Louis, Missouri.
authors.forename: A V
authors.initials: AV
authors.lastname: Hing
authors.forename: R
authors.initials: R
authors.lastname: Torack
authors.forename: S B
authors.initials: SB
authors.lastname: Dowton
mesh_terms: D000015:Abnormalities, Multiple / Q000401:mortality* / Q000473:pathology; D000328:Adult; D001344:Autopsy; D001921:Brain / Q000002:abnormalities; D001934:Branchial Region / Q000002:abnormalities; D005145:Face / Q000002:abnormalities; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D013577:Syndrome