Branchio-oculo-facial syndrome

Eyal Raveh, Blake C. Papsin, Vito Forte*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

Abstract

Branchio-oculo-facial (BOF) syndrome is a rare autosomal dominant disorder that has a distinct phenotype with characteristic craniofacial abnormalities. These consist of branchial anomalies, including supra-auricular sinuses, and aplastic cervical skin lesions, with possible ectopic dermal thymus, malformed auricles, stenotic external auditory canals, conductive hearing loss, ocular abnormalities (microphthalmia and lacrimal duct obstruction), and pseudocleft of the upper lip. Extracraniofacial malformations are uncommon. We describe two new cases of BOF and discuss the classical clinical presentation and differential diagnosis. Our two patients presented with facial nerve paralysis and were also were found to have inner ear dysplasias with associated sensorineural hearing loss which, to our knowledge, have not been described in the literature in association with this syndrome. Copyright (C) 2000 Elsevier Science Ireland Ltd.

Original languageEnglish
Pages (from-to)149-156
Number of pages8
JournalInternational Journal of Pediatric Otorhinolaryngology
Volume53
Issue number2
DOIs
StatePublished - 30 Jun 2000

Keywords

  • Branchial cleft sinus
  • Branchio-oculo-facial syndrome
  • Ectopic thymus
  • Facial nerve paralysis
  • Inner ear dysplasia
  • Pseudocleft lip

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