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KMID : 0361020000430050549
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Korean Journal of Otolaryngology - Head and Neck Surgery
2000 Volume.43 No. 5 p.549 ~ p.551
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A Case of CHARGE Syndrome
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Jung Yong-Jae
Kim Yong-Woo
Kim Hee-Kyu
Yoon Sang-Won
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Abstract
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CHARGE syndrome, 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
tract anomalies, and ear anomalies 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.
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KEYWORD
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CHARGE syndrome, Choanal atresia, Ear anomalies
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