Radiologic Findings of Multiple Anomaly Goldenhar Syndrome
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Case Report
P: 173-176
September 2015

Radiologic Findings of Multiple Anomaly Goldenhar Syndrome

J Pediatr Res 2015;2(3):173-176
1. Ege Üniversitesi Tıp Fakültesi, Radyoloji Anabilim Dalı, İzmir, Türkiye
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Received Date: 25.04.2015
Accepted Date: 16.06.2015
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ABSTRACT

Goldenhar syndrome (GS) or oculoauriculovertebral spectrum (OAVS) is associated with anomalous development of the first and second branchial arches and is characterized by hemifacial microsomia, ear anomalies, epibulbar dermoids or lipodermoids and vertebral anomalies. It can also be accompanied by cardiac, urogenital, skeletal anomalies and anomalies of the central nervous system. The presence of anomalies of the ear is necessary for diagnosis. The majority of cases are thought to be sporadic with occasional cases suggesting an autosomal-recessive or autosomal-dominant inheritance. A case of GS presented with right hemifacial microsomia, vertebra anomalies and myelination deficiency in both cerebral hemispheres is presented here.

Keywords:
Goldenhar syndrome
craniofacial abnormalities
facial asymmetry
epibulbar dermoid