Radiological Diagnosis of Atypical Case of Goldenhar Syndrome with Pulmonary Hypoplasia and Dextrocardia: A Case Report

Abstract

Goldenhar Syndrome, also synonymously known as oculo-auriculo-vertebral spectrum is a rare congenital malformation involving face, eyes, ears and vertebra. The exact etiopathogenesis is not clear but maldevelopment of first and second pharyngeal arches is mentioned in literature. This syndrome is associated with abnormalities in cardiac, renal, pulmonary and nervous system. Some cases present with classic abnormalities where diagnosis is usually clinical. However, atypical cases have also been reported. We report a case of one year old boy presenting with recurrent lower respiratory tract infection and feeding diaphoresis. Extensive examination and investigations revealed left preauricular tag with radiological evidence of butterfly deformity of sixth cervical vertebra, right pulmonary hypoplasia, dextrocardia, patent foramen ovale and pulmonary artery stenonis. These abnormalities are rare but associations have been reported.