Ocular anomalies in the branchio-oculo-facial syndrome

Aust N Z J Ophthalmol. 1998 Feb;26(1):43-6. doi: 10.1046/j.1440-1606.1998.00075.x.

Abstract

Purpose: To describe the ocular anomalies in two cases of branchio-oculo-facial syndrome (BOFS).

Methods: Two cases of BOFS are reviewed.

Results/conclusions: Branchio-oculo-facial syndrome is a rare branchial cleft syndrome that is characterized by a typical facial appearance of pseudo-cleft or cleft lip, subauricular branchial sinuses, deafness and ocular anomalies, which include nasolacrimal obstruction, telecanthus and colobomata. It has an autosomal dominant inheritance pattern.

Publication types

  • Case Reports

MeSH terms

  • Branchio-Oto-Renal Syndrome / complications*
  • Branchio-Oto-Renal Syndrome / diagnosis
  • Branchio-Oto-Renal Syndrome / genetics
  • Dacryocystorhinostomy
  • Eye Abnormalities / complications*
  • Eye Abnormalities / diagnosis
  • Eye Abnormalities / genetics
  • Follow-Up Studies
  • Humans
  • Infant
  • Lacrimal Duct Obstruction / diagnosis
  • Lacrimal Duct Obstruction / etiology
  • Male