Goldenhar Syndrome: A Case Report

Abstract

Introduction: Goldenhar Syndrome, (GS) also called oculoauriculovertebral dysplasia is a rare congenital disease arising from abnormal development of the first and second branchial arches1-3 Incidence is 1 in 3500-56004,5, male to female ratio of 3:21, 85% unilateral presentation1,5. Multifactorial risks factors implicated are genetic1,6; deletion of 5p, 14q23 duplication, Chr18,22 anomaly and 14q23 duplications are implicated. Others are gestational diabetes, second trimester bleeding, multiple gestation and maternal ingestion of vasoactive drugs: aspirin, pseudoephedrine, accutane, ibuprofen 6-8 and alcohol. ⁹ Viral 5 , environmental and other unknown factors are suspected as well. Clinical features include hemifacial microsomia, facial asymmetry maxillary hypoplasia, malar flattening ⁴. Ears may show, accessory tragi, tags, meatal atresia, low set ears, microtia and 6, laryngomalacia4-^6,10. Spine may have scoliosis and hemivertebrae10. Cardiac defects include ventricular septal defects (VSD) and transposition of great vessels ^4,6,10 . Tracheo- esophageal fistula and gastrointestinal (GIT) defects are associated ^4,6,10 . Central nervous system (CNS) defects include hydrocephalus, hypoplastic corpus callosum ^4,6,10 . Ophthalmic features occur in 60%11 and include epibulbar dermoid, usually located infero-temporally. Others are upper lid coloboma, unequal palpebral fissures, subconjunctival dermoid, uveal coloboma, retinal
coloboma, cataract, strabismus, microphthalmia and anophthalmia^4,6.