Korean J Otolaryngol-Head Neck Surg.  2000 May;43(5):549-551.

A Case of CHARGE Syndrome

• Jung YJ
• Kim YW
• Kim HK
• Yoon SW

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.

Keyword

CHARGE syndrome; Choanal atresia; Ear anomalies

MeSH Terms

CHARGE Syndrome*
Choanal Atresia
Coloboma
Ear
Growth and Development
Hearing Loss
Heart
Nasopharynx