Branchio-oculo-facial syndrome: Broadening the spectrum

M. McCool, D. D. Weaver

Research output: Contribution to journalArticle

16 Scopus citations


We present 3 individuals, a mother, her son, and an unrelated child, with a number of manifestations reported in the branchio-oculo-facial syndrome (BOFS). The former 2 individuals lacked the ocular and branchial abnormalities normally encountered in this syndrome. However, unilateral renal agenesis was present in the first child, a defect infrequently found in the BOF syndrome. Both the mother and her son also had bilateral supra- auricular sinuses. These defects may represent persistence of the otic vesicle sinus tract. The second child has a mild expression of this condition, among the mildest reported in the literature. The BOFS appears to represent a spectrum involving the development of the optic vesicles, branchial arches, eyes, face, lips, and kidneys. The variations seen in this disorder and the overlap between this condition and the branchio-oto-renal syndrome may represent different mutations within a single gene or may be a contiguous gene deletion syndrome.

Original languageEnglish (US)
Pages (from-to)414-421
Number of pages8
JournalAmerican Journal of Medical Genetics
Issue number4
StatePublished - Jan 1 1994


  • autosomal dominant inheritance
  • cleft lip
  • ear abnormality
  • otic vesicle
  • supra-auricular sinus

ASJC Scopus subject areas

  • Genetics(clinical)

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