A Female Case of Goldenhar Syndrome with Mandibular Hypoplasia and Aural Involvement
Journal Title: Journal of Advances in Medicine and Medical Research - Year 2016, Vol 11, Issue 8
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.
Authors and Affiliations
F. Ferrari, L. Patriarca, A. Piccorossi, S. Di Fabio, E. Di Cesare
Keywords
Related Articles
- EP ID EP340238
- DOI 10.9734/BJMMR/2016/21666
- Views 66
- Downloads 0
Spectrum of Adult Digestive Diseases Presenting at a Suburban Tertiary Health Facility in Nigeria
Background: Diseases of the digestive system vary in type and distribution worldwide. There is presently no comprehensive audit of the types of digestive diseases presenting at any particular tertiary health facility in...
Congenital Anomalies of the Alimentary Tract in Children: Experience in a Tertiary Health Facility in Enugu, Nigeria
Background: Congenital anomalies including those of the alimentary tract are among the leading causes of childhood morbidity and mortality. A variety of these anomalies could affect the alimentary tract with various medi...
Moderately Increased Albuminuria; Marker of Chronic Complications in Nigerian Diabetes Mellitus Type 2 Patients; Makurdi Perspective
Background: Diabetes mellitus (DM) and its complications are on the increase especially in the developing countries with significant negative economic consequences on individuals, families and health systems. Objective:...
Severe Pregnancy Induced Hypertension, a Dreaded Complication in Semi-Urban Area in Fako Division, Cameroon? A Case – Control Study
Introduction: Severe pregnancy-induced hypertension (severe pre-eclampsia and eclampsia) is a major cause of fetal and maternal morbidity and mortality. Pregnancy induced hypertension occurs in 7.7 – 8.2% of pregnancies...
Endodontic Repair Filling Materials: A Review Article
The emergence of Mineral Trioxide Aggregate (MTA) as endodontic repair filling material has generated a lot of interest due to its superior sealing ability and biocompatibility. Although MTA possesses superior sealing ab...