Charge Syndrome—A Case Report

作     者：A. Ravindran A. Amirthagani Prince Peter Dhas S. Nagarajan Senthil Kumar Satheesh Kumar   Venkatesh 

作者机构：Department of Otorhonolaryngology Thanjavur Madical College Thanjavur India 

出 版 物：《International Journal of Otolaryngology and Head & Neck Surgery》 (耳鼻喉（英文）)

年 卷 期：2015年第4卷第2期

页      面：156-162页

学科分类：1002[医学-临床医学] 100214[医学-肿瘤学] 10[医学] 

主　　题：Charge Syndrome Choanal Atresia Coloboma 

摘      要：CHARGE syndrome is a rare, recently well recognized entity with non-random pattern of congenital anomalies. The syndrome associations consist of C-coloboma of the eyes, H-heart disease, A-atresia of the choanae, R-retarded growth and development, G-genital hypoplasia/genitourinary anomalies and E-ear anomalies and/or hearing loss. All anomalies are not seen in every case and a varied spectrum of associations is seen in most of the cases. The exact incidence is not known. However, the reported prevalence is approximately 1:10,000 births. We report one such case.