A Female Case of Goldenhar Syndrome with Mandibular Hypoplasia and Aural Involvement
F. Ferrari
Department of Biotechnological and Applied Clinical Sciences, University of L’Aquila, L’Aquila, Italy
F. D’Orazio
Department of Biotechnological and Applied Clinical Sciences, University of L’Aquila, L’Aquila, Italy
L. Patriarca
Department of Biotechnological and Applied Clinical Sciences, University of L’Aquila, L’Aquila, Italy
A. Piccorossi
Pediatric and Neonatal Unit, S. Salvatore Hospital, L’Aquila, Italy
S. Di Fabio
Pediatric and Neonatal Unit, S. Salvatore Hospital, L’Aquila, Italy
A. Barile
Department of Biotechnological and Applied Clinical Sciences, University of L’Aquila, L’Aquila, Italy
E. Di Cesare
Department of Biotechnological and Applied Clinical Sciences, University of L’Aquila, L’Aquila, Italy
A. Splendiani *
Department of Biotechnological and Applied Clinical Sciences, University of L’Aquila, L’Aquila, Italy
*Author to whom correspondence should be addressed.
Abstract
Goldenhar syndrome (GS) is a poly-malformation syndrome, also defined as oculo-auricolo-vertebral 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 poly-marformation syndrome.
Keywords: Goldenhar syndrome (GS), magnetic resonance, computed tomography, oculo-auriculo-vertebral dysplasia, hemifacial microsomia, pre-auricular tragi.