C S Su1, S B O'Hagen, T J Sullivan. 1. Oculoplastic and Lacrimal Unit, Royal Victorian Eye and Ear Hospital, East Melbourne, Victoria, Australia. cens@c031.aone.net.au
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.
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.
Authors: M S Al-Dosari; M Almazyad; L Al-Ebdi; J Y Mohamed; Saad Al-Dahmash; Hassan Al-Dhibi; Eman Al-Kahtani; Shahira Al-Turkmani; Hisham Alkuraya; B D Hall; F S Alkuraya Journal: Mol Vis Date: 2010-05-08 Impact factor: 2.367