Fiore C, Santoni G, Lungarotti S, Signorini E
Ophthalmologica. 1983;186(3):162-8. doi: 10.1159/000309278.
The authors report an atypical case of Goldenhar syndrome characterized by hemifacial and cranial hypoplasia associated with severe microtia and anophthalmia on the right side, antimongoloid palpebral fissures, epibulbar epidermoid, corneal anesthesia and preauricular tags on the left side. The bilateral presence of characteristic features of Goldenhar syndrome is rare and lends support to the possibility that the patient presents an intermediate form of developmental defect of the first branchial arch. The differential diagnosis is discussed.
作者报告了一例非典型的Goldenhar综合征病例，其特征为右侧半侧面部和颅骨发育不全，伴有严重小耳畸形和无眼畸形，左侧有反蒙古样睑裂、眼球表面表皮样瘤、角膜麻醉和耳前赘生物。Goldenhar综合征特征性表现双侧出现的情况罕见，这支持了该患者呈现第一鳃弓发育缺陷中间形式的可能性。文中讨论了鉴别诊断。
