An oculo-auriculo-vertebral spectrum: A radiological case report and literature review of Goldenhar syndrome with hemifacial microsomia

Abstract

Goldenhar syndrome, or the oculo-auriculo-vertebral syndrome, is an uncommon congenital condition associated with a broad range of anomalies involving the craniofacial structures, typically unilateral, and the vertebrae, but may also show systemic involvement. Many times, the syndrome may be diagnosed late or misdiagnosed due to overlapping features with other congenital syndromes, commonly the Treacher-Collins syndrome. This case report highlights a 6-year-old child who presented with classical features of hemifacial microsomia with vertebral anomalies and summarizes the features seen in Goldenhar syndrome to achieve a prompt radiological diagnosis.