묘성증후군 환아 1예에서 관찰된 안과적 소견

• 영문명: Ocular Findings in Cri Du Chat Syndrome: A Case Report
• 발행기관: 대한안과학회
• 저자명: 김상균 김형석 김승현,Sang Kyoon Kim, M.D., Hyoung-Seok Kim, M.D., Seung Hyun Kim, M.D., Ph.D.
• 간행물 정보: 『대한안과학회지』Ophthalmological Society,volume49,number11, 1867~1870쪽, 전체 4쪽
• 주제분류: 의약학 > 기타의약학
• 파일형태: PDF
• 발행일자: 2008.11.15

영문 초록

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. J Korean Ophthalmol Soc 2008;49(11):1867-1870

키워드

Cri du chat syndrome, Epicanthal folds, Exotropia, Hypertelorism, Telecanthus