Mansour A M, Wang F, Henkind P, Goldberg R, Shprintzen R
Am J Ophthalmol. 1985 Oct 15;100(4):555-9. doi: 10.1016/0002-9394(85)90681-6.
We reviewed the ocular findings in 57 consecutive patients with the facioauriculovertebral sequence (Goldenhar-Gorlin syndrome). Epibulbar choristomas were detected in 18 cases (32%), a much lower occurrence than reported previously. Various motility disorders (11 cases, 19%), blepharoptosis or narrow palpebral fissures (seven cases, 12%), eyelid colobomas (six cases, 11%), and lacrimal drainage system anomalies (six cases, 11%) were more frequent than previously noted. These ocular findings were more common in the patients with epibulbar choristomas. Of the various features of the Goldenhar-Gorlin syndrome (skin tags, microtia, hemifacial microsomia, and vertebral anomalies), only skin tags correlated positively with the laterality of epibulbar choristomas. Preauricular and facial tags represent choristomas, explaining their association with epibulbar choristomas and the laterality they share.
我们回顾了57例连续性患有面耳椎序列（Goldenhar-Gorlin综合征）患者的眼部检查结果。在18例（32%）患者中检测到眼球表面的迷芽瘤，其发生率远低于先前报道。各种运动障碍（11例，19%）、上睑下垂或睑裂狭窄（7例，12%）、眼睑缺损（6例，11%）以及泪道系统异常（6例，11%）比先前报道更为常见。这些眼部表现多见于有眼球表面迷芽瘤的患者。在Goldenhar-Gorlin综合征的各种特征（皮肤赘生物、小耳畸形、半侧颜面短小畸形和椎体异常）中，只有皮肤赘生物与眼球表面迷芽瘤的侧别呈正相关。耳前和面部赘生物代表迷芽瘤，解释了它们与眼球表面迷芽瘤的关联以及所共有的侧别。
