Goldenhar Syndrome: A Case Report

Abstract

Goldenhar Syndrome, also known as Oculo-auriculo-vertebral Dysplasia, is one of the rare congenital developmental disorders that 
usually affects the anatomical structures derived from the first and second branchial arches. It is mostly sporadic in nature. 
Abnormality or defect in vascular supply of the embryo, as well as disruption in mesodermal migration, leads to the defective 
formation of the branchial arches and the vertebral system, which ultimately results in the development of Goldenhar syndrome. 
Clinical manifestations of Goldenhar Syndrome range from mild to severe forms. The characteristic clinical features are- 
maxillomandibular hypoplasia, epibulbar dermoid cyst, pretragal fistula, preauricular skin appendages, atresia of external, middle, and internal ear, and vertebral abnormalities. Here, we report a case of an 18-year-old male patient with typical orofacial manifestations of this syndrome. He had features like maxillomandibular hypoplasia, deviated nasal septum, preauricular tags, microtia, torticollis, cleft lip, and palate. The importance of the case report is to highlight the highly variable presentation of this congenital anomaly, facilitating early diagnosis and a multidisciplinary approach.