A lethal syndrome resembling branchio‐oculo facial syndrome

A. V. Hind, Richard Torack, S. B. Dowton*

*Corresponding author for this work

Research output: Contribution to journalArticle

8 Citations (Scopus)

Abstract

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.

Original languageEnglish
Pages (from-to)74-78
Number of pages5
JournalClinical Genetics
Volume41
Issue number2
DOIs
Publication statusPublished - 1992
Externally publishedYes

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