Case Report

Radiologic Findings of Multiple Anomaly Goldenhar Syndrome

10.4274/jpr.58070

  • Edis Çolak
  • Petek Bayındır
  • Hüdaver Alper

Received Date: 25.04.2015 Accepted Date: 16.06.2015 J Pediatr Res 2015;2(3):173-176

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

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