Su C S, O'Hagen S B, Sullivan T J
Oculoplastic and Lacrimal Unit, Royal Victorian Eye and Ear Hospital, East Melbourne, Victoria, Australia.
Aust N Z J Ophthalmol. 1998 Feb;26(1):43-6. doi: 10.1046/j.1440-1606.1998.00075.x.
To describe the ocular anomalies in two cases of branchio-oculo-facial syndrome (BOFS).
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.
描述两例鳃-眼-面综合征（BOFS）的眼部异常情况。
对两例BOFS病例进行回顾性分析。
结果/结论：鳃-眼-面综合征是一种罕见的鳃裂综合征，其特征为典型的面部外观，如假性腭裂或唇裂、耳下鳃窦、耳聋和眼部异常，包括鼻泪管阻塞、内眦间距增宽和缺损。它具有常染色体显性遗传模式。
