PMID: 9524030Apr 2, 1998Paper

Ocular anomalies in the branchio-oculo-facial syndrome

Australian and New Zealand Journal of Ophthalmology
C S SuT J Sullivan

Abstract

To describe the ocular anomalies in two cases of branchio-oculo-facial syndrome (BOFS). Two cases of BOFS are reviewed. 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.

References

Sep 15, 1992·American Journal of Medical Genetics·S SchmerlerF Desposito
Apr 1, 1992·European Journal of Pediatrics·D MazzoneC Carpinato
Aug 1, 1987·American Journal of Medical Genetics·A FujimotoM G Wilson
Feb 15, 1994·American Journal of Medical Genetics·M McCool, D D Weaver

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Citations

Sep 1, 2005·Indian Journal of Pediatrics·M L KulkarniPreethi M Kulkarni
Aug 17, 2005·International Journal of Dermatology·Mohammad A El DaroutiIman El Nabarawi
Sep 8, 2004·Ophthalmology·Sonia J Ahn YuenTimothy J Sullivan

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