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Fibrotic eye muscles, Axenfeld anomaly, flat face, and mild developmental retardation: a new example of the Chitty syndrome.

作者信息

Van Daele S G, Van Coster R N, Meire F, Smets A M, Leroy J G

机构信息

Department of Pediatrics, Ghent University, School of Medicine, Belgium.

出版信息

Am J Med Genet. 1996 Oct 28;65(3):205-8. doi: 10.1002/(SICI)1096-8628(19961028)65:3<205::AID-AJMG6>3.0.CO;2-O.

Abstract

We have studied a girl with fibrotic extrinsic eye muscles, Axenfeld anomaly, unusual facial appearance, mild hydrocephaly, and neurodevelopmental delay. Her condition is similar to the one described recently in members of a single family by Chitty et al. [1991, Am J Med Genet 40:417-420]. We suggest that she represents a second example of what may be called the Chitty syndrome.

摘要

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