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.
Hing
A V
AV
Edward Mallinckrodt Department of Pediatrics, Washington University School of Medicine, St. Louis, Missouri.
Torack
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R
Dowton
S B
SB
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