4형 와덴버그증후군

• 영문명: A Case of Waardenburg Syndrome Type 4
• 발행기관: 대한안과학회
• 저자명: 심현찬 김정규 박대진,Hyun Chan Shim, MD, Jeong Kyu Kim, MD, Dae Jin Park, MD
• 간행물 정보: 『대한안과학회지』Ophthalmological Society,volume54,number1, 176~179쪽, 전체 4쪽
• 주제분류: 의약학 > 기타의약학
• 파일형태: PDF
• 발행일자: 2013.01.15

영문 초록

Purpose: To report the first case of Waardenburg syndrome type 4 in Korea. Case summary: A 3-year-old boy visited our clinic to have his abnormal right eye iris color checked. The patient had a previous operation Hirschsprung’s disease. In addition, his older sister and aunt showed similar ocular findings. A general physical examination, hearing test, and fundus examination were performed. On examination, hypochromic heterochromic iridum, albinism of the posterior pole upon ipsilateral fundus, and dystopia canthorum were found. There was no abnormal finding in the hearing test. Conclusions: The patient showed hypochromic heterochromic iridum, dystopia canthorum, and albinism of ipsilateral fundus. He also had a family history of Waardenburg syndrome and had surgery associated with congenital megacolon. The patient was diagnosed with Waardenburg syndrome type 4.

키워드

Hirschsprung’s disease, Hypochromic heterochromic iridum, Waardenburg syndrome