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Case Reports
. 1998 Feb;26(1):43-6.
doi: 10.1046/j.1440-1606.1998.00075.x.

Ocular anomalies in the branchio-oculo-facial syndrome

C S Su  1 , S B O'Hagen, T J Sullivan
Affiliations
Case Reports

Ocular anomalies in the branchio-oculo-facial syndrome

C S Su et al. Aust N Z J Ophthalmol. 1998 Feb.

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.

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