文章基本信息

标题：Ocular Findings in Cri Du Chat Syndrome : A Case Report
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作者：Kim, Sang Kyoon ; Kim, Hyoung-Seok ; Kim, Seung Hyun 等
期刊名称：Journal of the Korean Ophthalmological Society
印刷版ISSN：0378-6471
出版年度：2008
卷号：49
期号：11
页码：1867-1870
DOI：10.3341/jkos.2008.49.11.1867
语种：Korean
出版社：The Korean Ophthalmological Society
摘要：Purpose
To report the ophthalmologic examination of an infant who has cri du chat syndome with exotropia and facial abnormalities.
Case summary
A 7 ‐ month ‐ old infant was confirmed as having cri du chat syndrome by a chromosomal study. He showed mild developmental retardation and eyeball deviation. This male infant underwent ophthalmic evaluations, including an extraocular examination, measurement of deviation, ocular movement test, interepicanthal distance, and fundus examination. As a result, facial abnormalities were found, including telecanthus and epicanthal folds. The infant had intermittent exotropia of 40 prism diopters according to the Hirschberg test and optic atrophy according to the fundus examination.
Conclusions
Cri du chat syndrome manifests with many different ocular symptoms, including hypertelorism, telecanthus, epicanthal folds, and exotropia.
关键词：Cri du chat syndrome; Epicanthal folds; Exotropia; Hypertelorism; Telecanthus