3형 와덴버그증후군

• 영문명: Type 3 Waardenburg Syndrome
• 발행기관: 대한안과학회
• 저자명: 기세영 이영춘 이세엽,Se-Young Kee, M.D., Young-Chun Lee, M.D., Se-Youp Lee, M.D.
• 간행물 정보: 『대한안과학회지』Ophthalmological Society,volume46,number4, 726~730쪽, 전체 5쪽
• 주제분류: 의약학 > 기타의약학
• 파일형태: PDF
• 발행일자: 2005.04.30

영문 초록

Purpose: We report a case of Type 3 Waardenburg syndrome accompanied by intermittent exotropia, which had not previously been encountered in Korea along with the literature study Methods: A 5-year-old boy visited as a result of hypochromic heterochromic iridum in the right eye. Suspecting Type 3 Waardenburg syndrome, plain radiography, a hearing test, an alternate prism cover test and fundus examinations were performed and the presence of lateral displacement of the lacrimal puntum was evaluated. Results: The presence of hypochromic heterochromic iridum, dysplasia of the left thumb, sensorineural deafness, dystopia canthorum along with a lateral displacement of the lacrimal puntum, albinism of the posterior pole upon a fundus examination, and intermittent exotropia with a 20 prism diopters of deviation were found. Conclusions: This patient showed the 4 criteria for a diagnosis of Type 3 Waardenburg syndrome including hypochromic heterochromic iridum, dystopia canthorum along with lateral displacement of the lacrimal puntum, sensorineural deafness, and a muscular system abnormality, i.e., dysplasia of the left thumb. He also showed intermittent exotropia.

키워드

Dystopia canthorum, Hypochromic heterochromic iridum, Waardenburg syndrome