Goldenhar syndrome-a case report

Abstract

Goldenhar syndrome is a rare developmental disorder affecting first and second branchial arches with its manifestations in multiple systems of the body. The aetiology of the syndrome is not clear however many theories have been proposed and described. It is characterised by presence of epibulbar dermoids, fistulas and preauricular appendages. In addition to facial defects the syndrome also manifests abnormalities in renal, genitourinary, cardiac and skeletal systems. Asymmetry in Goldenhar syndrome is usually obvious at the time of birth and increases with age, particularly at puberty. The ear defects can be both unilateral and bilateral but involvement of right ear is more common. To confirm diagnosis, it is imperative to have at least microtia and preauricular or auricular defects. The prognosis of the condition is good in patients who have no complicated systemic associations. A multidisciplinary team of doctors is required for successful treatment of the syndrome. We present here a case of Goldenhar syndrome in an 8-year-old girl with classic manifestations.