클리페-페일증후군에 동반된 듀안안구후퇴증후군 1예 : 불완전 형태의 빌데르밴크증후군

• 영문명: A Case of Klippel-Feil Syndrome combined with Duane Retraction Syndrome: Incomplete Form of Wildervanck Syndrome
• 발행기관: 대한안과학회
• 저자명: 이기황 문상호 김준범 조재호 장윤희,Ki Hwang Lee, M.D., Sang Ho Moon, M.D., Jun Bum Kim, M.D., Jae Ho Cho, M.D., Yoon-Hee Chang, M.D.
• 간행물 정보: 『대한안과학회지』Ophthalmological Society,volume46,number6, 1084~1088쪽, 전체 5쪽
• 주제분류: 의약학 > 기타의약학
• 파일형태: PDF
• 발행일자: 2005.06.30

영문 초록

Purpose: Klippel-Feil syndrome is defined as the congenital fusion of two or more cervical vertebrae. The clinical features are low posterior hair line, short neck, and limitation of the movement of the head and neck. Wildervanck syndrome, also known as cervicooculoacoustic syndrome, is a rare genetic disorder that primarily affects females. The disorder is characterized by Klippel-Feil syndrome, Duane syndrome and hearing impairment at birth, although one of these symptoms may be lacking. This report describes a case of Klippel-Feil syndrome combined with Duane retraction syndrome, which can be defined as an incomplete form of Wildervanck syndrome. Methods: A 15-year-old girl with congenitally fused cervical vertebrae at two levels, C2-C4 vertebrae and, C5-C7 vertebrae, was diagnosed as Klippel-Feil syndrome. Ophthalmologic evaluation was needed due to abnormality in ocular motility. Results: Ophthalmologic examination revealed a visual acuity of 0.9 without correction in both eyes. Slit-lamp and fundus examination were normal. Ocular motility examination showed 14 prism diopters right esotropia in primary gaze, limited abduction, globe retraction, and narrowing of the palpebral fissure on adduction of the right eye.

키워드

Duane retraction syndrome, Klippel-Feil syndrome, Wildervanck syndrome