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


METHODS
Two cases of BOFS are reviewed.


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.
Su
C S
CS
Oculoplastic and Lacrimal Unit, Royal Victorian Eye and Ear Hospital, East Melbourne, Victoria, Australia. cens@c031.aone.net.au
O'Hagen
S B
SB
Sullivan
T J
TJ
D019280:Branchio-Oto-Renal Syndrome / Q000150:complications* / Q000175:diagnosis / Q000235:genetics; D003608:Dacryocystorhinostomy; D005124:Eye Abnormalities / Q000150:complications* / Q000175:diagnosis / Q000235:genetics; D005500:Follow-Up Studies; D006801:Humans; D007223:Infant; D007767:Lacrimal Duct Obstruction / Q000175:diagnosis / Q000209:etiology; D008297:Male