Desai Vela
Jaipur Dental College, India.
Dent Med Probl. 2019 Oct-Dec;56(4):427-431. doi: 10.17219/dmp/110234.
Goldenhar syndrome (GS) is a rare congenital anomaly involving the first and second branchial arches. It is an autosomal dominant genetic disorder in which there is abnormal prenatal development of the head and face leading to the subsequent asymmetry of craniofacial structures. It is generally sporadic, with its incidence ranging from 1:3,500 to 1:5,600 live births and a gender ratio of 3:2 (male:female). Goldenhar syndrome is considered to be a variant of hemifacial microsomia, characterized additionally by vertebral anomalies and epibulbar dermoids. Facio-auricular dysplasias represent a single disorder with great variability of expression, and an isolated ear malformation may represent the mildest expression of the disorder. This report presents a case of the oculo-auriculo-vertebral spectrum (OAVS) with radial defects, a unilateral bifid condyle and taurodontism. The presence of a bifid condyle and taurodontism has not been previously reported in the literature. Whether this is a coincidental or new finding has to be hypothesized and confirmed. The documentation of all such new findings is of utmost importance for updating the existing literature.
戈尔登哈综合征（GS）是一种涉及第一和第二鳃弓的罕见先天性异常。它是一种常染色体显性遗传病，其中头部和面部在产前发育异常，导致随后颅面结构不对称。它通常为散发性，发病率在每3500至5600例活产中有1例，男女比例为3:2（男:女）。戈尔登哈综合征被认为是半侧颜面短小畸形的一种变体，其特征还包括脊柱异常和眼球皮样囊肿。面耳发育异常代表一种单一疾病，表现具有很大变异性，孤立性耳部畸形可能代表该疾病最轻微的表现。本报告介绍了一例伴有桡骨缺损、单侧双髁突和牛牙症的眼耳脊椎谱系（OAVS）病例。双髁突和牛牙症的存在此前在文献中尚未有报道。这是巧合还是新发现必须进行假设并加以证实。记录所有此类新发现对于更新现有文献至关重要。
