DR. SARA RIZVI

DR.NEELIMA MEHROTRA

Abstract

INTRODUCTION-Goldenhar syndrome, also known as Oculo-auriculo-vertebral dysplasia, includes a spectrum of anomalies affecting the eyes, ears, vertebrae and organs like heart, kidney, lungs and nervous system.

CASE REPORT- A 27-year-old female presented with coloboma of right upper lid, epibulbar lipodermoid in right eye and a pre-auricular skin tag in front of the right ear present since birth. Her medical history was otherwise unremarkable. She had no vision loss or hearing loss and no vertebral, craniofacial, cardiac, renal, respiratory, or central nervous system defects. She was managed surgically, wherein a direct closure of the right upper lid coloboma was done with lipodermoid cyst excision with excision of the pre-auricular skin tag under local anaesthesia.

CONCLUSION-This case illustrates a mild penetrance of Goldenhar Syndrome with primarily cosmetic problems. However, a multidisciplinary assessment of such patients should be done to identify all the related anomalies.