Ng Yan-Yan, Hu Jui-Ming, Su Pen-Hua, Chen Jia-Yuh, Yang Ming-Shiang, Chen Suh-Jen
Department of Pediatrics, Chung Shan Medical University Hospital, No. 110 Chien-Kuo N. Road, Sec. 1, Taichung 402, Taiwan.
Acta Paediatr Taiwan. 2006 May-Jun;47(3):142-5.
Goldenhar syndrome, also known as oculoauriculovertebral dysplasia, is an uncommon condition, characterized by a combination of anomalies: epibulbar dermoids or lipodermoids, preauricular appendices, malformation of the ears, hemifacial microsomia, vertebral anomalies, and others. The etiology of this disease has remained unclear; factors including chromosomal abnormalities, maternal diabetes mellitus or drug use, and influence of environment during pregnancy have been proposed. Here, we describe a case of Goldenhar syndrome in a 1-day-old female newborn, who presented with right external ear atresia, left preauricular appendices, cleft-like extension of the right oral angle, mandibular hypoplasia and relatively small hands. The literature on Goldenhar syndrome is briefly reviewed.
Goldenhar综合征，也称为眼耳脊椎发育不良，是一种罕见的病症，其特征为多种异常的组合：眼球皮样囊肿或脂质皮样囊肿、耳前附件、耳部畸形、半侧颜面短小、脊椎异常等。该疾病的病因尚不清楚；已提出的因素包括染色体异常、母亲糖尿病或药物使用以及孕期环境影响。在此，我们描述一例1日龄女性新生儿的Goldenhar综合征病例，该患儿表现为右外耳道闭锁、左耳前附件、右口角裂样延伸、下颌发育不全及双手相对较小。本文对Goldenhar综合征的文献进行了简要综述。
