Goldenhar syndrome

Abstract

Goldenhar syndrome, also recognised as oculo-auriculo-vertebral spectrum, is a very rare condition distinguished by a diverse array of clinical abnormalities affecting the ocular, auditory, vertebral and various organ systems. The pathophysiology of this condition is not fully elucidated due to its inherent genetic variability and rarity. In this report, we present a case of Goldenhar syndrome in a toddler boy, aiming to enhance the existing body of literature on this condition.

Keywords: Ear, nose and throat; Eye; Genetics; Paediatrics.