A Case of CHARGE Syndrome / 대한이비인후과학회지

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.