Pinheiro Antônio Luiz Barbosa, Araújo Luciana Cavalcanti, Oliveira Suely Baptista, Sampaio Maria Carmeli Correia, Freitas André Carlos
Laser Center, School of Dentistry, Federal University of Bahia (UFBA), Salvador, BA, Brazil.
Braz Dent J. 2003;14(1):67-70. doi: 10.1590/s0103-64402003000100013. Epub 2003 Jul 31.
Goldenhar's syndrome is a rare condition described initially in the early 1950's. It is characterized by a combination of anomalies: dermal epibulbar cysts, auricular appendices and malformation of the ears. In 1963, Gorlin suggested the name oculo-auriculo-vertebral (OAV) dysplasia for this condition and also included vertebral anomalies as signs of the syndrome. The etiology of this rare disease is not fully understood, as it has shown itself variable genetically and of unclear causes. This work reports a case of Goldenhar's syndrome in an 11-year-old female, who presented all classical signs of this rare condition
戈尔登哈综合征是一种在20世纪50年代初首次被描述的罕见病症。它的特征是多种异常情况同时出现:眼球皮样囊肿、耳附件以及耳部畸形。1963年,戈林建议将这种病症命名为眼-耳-脊椎(OAV)发育异常,并且还将脊椎异常也纳入该综合征的体征之中。这种罕见疾病的病因尚未完全明确,因为它在遗传方面表现出多样性且病因不明。本文报告了一例11岁女性的戈尔登哈综合征病例,该患者呈现出了这种罕见病症的所有典型体征。