A Female Case of Goldenhar Syndrome with Mandibular Hypoplasia and Aural Involvement

Abstract

Goldenhar syndrome (GS) is a poly-malformation syndrome, also defined as oculo-auricolovertebral dysplasia with hemifacial microsomia. It is a rare congenital defect involving first and second branchial arches. The aetiology is not known. The most supported hypothesis is based on the abnormal embryonic vascular supply after mesodermal migration. Autosomal dominant, autosomal recessive and multifactorial modes of inheritance have been reported. We report the case of a female neonate affected by hemifacial microsomia and presence of pre-auricular tragi. Patients were subjected to computed tomography scan and MRI that revealed a mandibular unilateral hypoplasia without association of skeleton, brain and ocular alteration. The purpose of our study was to define the important role of the CT and MRI in the diagnosis of this polymarformation syndrome.