A Case of CHARGE Syndrome.
- Author:
Yong Jae JUNG
1
;
Yong Woo KIM
;
Hee Kyu KIM
;
Sang Won YOON
Author Information
1. Department of Otorhinolaryngology, School of Medicine, Eulji University, Seoul, Korea.
- Publication Type:Case Report
- Keywords:
CHARGE syndrome;
Choanal atresia;
Ear anomalies
- MeSH:
CHARGE Syndrome*;
Choanal Atresia;
Coloboma;
Ear;
Growth and Development;
Hearing Loss;
Heart;
Nasopharynx
- From:Korean Journal of Otolaryngology - Head and Neck Surgery
2000;43(5):549-551
- CountryRepublic of Korea
- Language:Korean
-
Abstract:
CHARGE syndroine, first described by Pagon, was named for its six dominant clinical features. They are coloboma of the eye, heart defects, atresia of the choanae, retarded growth and development including CNS anomalies, genital hypoplasia and/or urinary anomalies, and ear anormalies and/or hearing loss, We report a case of CHARGE syndrome with choanal atresia and ear anomalies in the otorhinolaryngologic field, with a review of the previously reported literature concerning CHARGE syndrome.
