The “expanded Goldenhar syndrome” – A rare entity

Abstract

Goldenhar syndrome is a rare congenital condition occurring due to defects in the first and second branchial arches and encompasses a wide range of anomalies involving craniofacial structures, vertebrae, and internal organs, typically manifesting unilaterally. The causes for the defects are heterogenous with most cases being sporadic; however, the exact etiology of the disorder is still unknown. In this case report, we present a case of an adult male presenting with features of Goldenhar syndrome with ipsilateral pulmonary aplasia, which is a rare association.