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Klin Monbl Augenheilkd 2014; 231(4): 382-383
DOI: 10.1055/s-0034-1368281
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Georg Thieme Verlag KG Stuttgart · New York

Abnormal Extraocular Muscle Insertion in Williams Beuren Syndrome (WBS)

Anormale Muskelinsertion der extraokulären Muskeln im Williams-Beuren-Syndrom (WBS)
C. Bela
Service dʼophtalmologie de lʼUniversité de Lausanne, Hôpital ophtalmique Jules-Gonin, Fondation Asile des aveugles, Unité de strabologie (Chef de service: Prof. Francine Behar Cohen), Lausanne, Switzerland
,
G. Klainguti
Service dʼophtalmologie de lʼUniversité de Lausanne, Hôpital ophtalmique Jules-Gonin, Fondation Asile des aveugles, Unité de strabologie (Chef de service: Prof. Francine Behar Cohen), Lausanne, Switzerland
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Publication History

Publication Date:
25 April 2014 (online)

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Introduction

Wiliams Beuren syndrome (WBS) is a multisystemic genetic disorder with sporadic transmission, due to contiguous gene deletion on the 7th chromosome on the locus q11.23. Clinical criterias are mental retardation, congenital heart disease such as aortic stenosis and high blood pressure, “elfin” facial appearance [[Fig. 1]] and hypercalcemia [1]. Ocular conditions in WBS are mentioned by only few articles and mention hyperopia, iris atrophy, retinian vessels tortuosity, epicanthal folds and keratoconus [2], [3]. Strabismus has been described in up to 20 % of cases and those patients often have to undergo surgery.

 

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