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2003•Journal of Clinical Otolaryngology Head and Neck SurgeryOpen access

A Case of CHARGE Syndrome

Jae Hoon Lee, Cha Kun Oh, Jin Ok Choi

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Abstract

Bilateral congenital choanal atresia, one of the most common nasal anomalies, is in need of emergency treatment in the otolaryngologic field. CHARGE syndrome is a very rare disease with six congenital malformations which are characterized by coloboma of the eye, hearing deficit, choanal atresia, retardation of growth, genital defect and endocardial cushion defect. We report a case of CHARGE syndrome that is composed with bilateral choanal atresia, hearing deficit, coloboma, patent ductus arteriosus and other anomaly such as hiatal hernia with reviewing reported references. (J Clinical Otolaryngol 2003;14:137-140)

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What this paper is about

Bilateral congenital choanal atresia, one of the most common nasal anomalies, is in need of emergency treatment in the otolaryngologic field. CHARGE syndrome is a very rare disease with six congenital malformations which are characterized by coloboma of the eye, hearing deficit, choanal atresia, retardation of growth, genital defect and endocardial cushion defect. We report a case of CHARGE syndrome that is composed with bilateral choanal atresia, hearing deficit, coloboma, patent ductus arteriosus and other anomaly such as hiatal hernia with reviewing reported references. (J Clinical Otolaryngol 2003;14:137-140)

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Available abstract

Bilateral congenital choanal atresia, one of the most common nasal anomalies, is in need of emergency treatment in the otolaryngologic field. CHARGE syndrome is a very rare disease with six congenital malformations which are characterized by coloboma of the eye, hearing deficit, choanal atresia, retardation of growth, genital defect and endocardial cushion defect. We report a case of CHARGE syndrome that is composed with bilateral choanal atresia, hearing deficit, coloboma, patent ductus arteriosus and other anomaly such as hiatal hernia with reviewing reported references. (J Clinical Otolaryngol 2003;14:137-140)

Key concepts: Choanal atresia, CHARGE syndrome, Coloboma, Medicine, Ductus arteriosus, Atresia, Pediatrics, Surgery

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