Schmitzer Speranţa, Burcel Miruna, Dăscălescu Dana, Popteanu Ioana Claudia
Emergency Eye Hospital, Bucharest, Romania.
Rom J Ophthalmol. 2018 Apr-Jun;62(2):96-104.
Goldenhar syndrome (oculo-auriculo-vertebral dysplasia, OAVS) is a rare, congenital disease arising from the abnormal development of the first and second branchial arches. The incidence is between 1:3500 and 1:5600, with a male: female ratio of 3:2. The etiopathogenesis is multifactorial and dependent on genetic and environmental factors but there are still many unknown aspects. The classic features of Goldenhar syndrome include ocular anomalies - epibulbar dermoids, microphthalmia and coloboma, ENT features such as preauricular tragi, hearing loss, low implantation of the auricular pavilion, micrognathia, and vertebral anomalies such as scoliosis or hemivertebrae. The abnormalities are unilateral in 85% of the cases. Ocular features, especially bilateral dermoids are seen in 60% of the cases. The treatment varies with age and systemic associations, from mainly cosmetic, in uncomplicated cases, to complex reconstructive surgeries in severe cases. While the oculoplastic surgeon manages the oculo-palpebral defects, severe forms require a multidisciplinary approach. Treatment should be individualized, adapted to age, as well as to the extent and severity of the disease. The paper is based on the editorial team cases and experience.
戈尔登哈综合征（眼-耳-脊椎发育不良，OAVS）是一种罕见的先天性疾病，由第一和第二鳃弓异常发育引起。发病率在1:3500至1:5600之间，男女比例为3:2。其发病机制是多因素的，取决于遗传和环境因素，但仍有许多未知方面。戈尔登哈综合征的典型特征包括眼部异常——眼球皮样囊肿、小眼症和缺损，耳鼻喉特征如耳前赘生物、听力损失、耳廓低位、小颌畸形，以及脊柱异常如脊柱侧弯或半椎体。85%的病例异常为单侧。60%的病例可见眼部特征，尤其是双侧皮样囊肿。治疗因年龄和全身合并症而异，从单纯病例的主要美容治疗到严重病例的复杂重建手术。虽然眼整形医生处理眼睑缺陷，但严重形式需要多学科方法。治疗应个体化，根据年龄以及疾病的范围和严重程度进行调整。本文基于编辑团队的病例和经验。
