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28 February 2007

Goldenhar’s syndrome with lens subluxation; a case report

Ahmet Güzel, Yasemin Küçükuğurluoğlu, Osman Temizöz, Hakan Gençhellaç, Perçem Bosnali, Serap Karasalihoğlu

Case Rep Clin Pract Rev 2007; 8:69-72 :: ID: 476511

Abstract

Background: Goldenhar’s syndrome (oculoauriculovertebral dysplasia- OAV) that is caused by congenital dysplasia of the first and second branchial arches, consists of a variety of ocular, auricular, vertebral anomalies, and other craniofacial anomalies.
Case Report: We report a case of Goldenhar’s syndrome in a 3-year-old girl who presented hemifacial microsomia, atretic meningocele with scalp defect, ocular (lens subluxation that had not been reported before), and auriculo-vertebral anomalies.
Conclusions: A multidisciplinary approachment has to be shown in Goldenhar cases at an early stage to prevent multisystemic complications. It has to be remembered that rarely seen anomalies like lens subluxation can be seen with this syndrome like other cardinal features.

Keywords: Goldenhar’s syndrome (oculo-auriculo-vertebral dysplasia), Lens Subluxation, hemifacial microsomia, three-dimensional computed tomography

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American Journal of Case Reports eISSN: 1941-5923
American Journal of Case Reports eISSN: 1941-5923