Abstract
The CHARGE association is a polymalformative disease associating coloboma, heart disease, atresia of choanae, retarded growth and development, genital hypoplasia and ear anomalies, CHARGE being an acronym based on these different malformations. The diagnosis requires at least four of these malformations including necessarily coloboma and/or atresia of choanae. The various clinical aspects, the genetics and the therapeutics implications are described.
Publication types
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Case Reports
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English Abstract
MeSH terms
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Abnormalities, Multiple / diagnosis*
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Abnormalities, Multiple / genetics
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Abnormalities, Multiple / therapy
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Choanal Atresia / complications
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Choanal Atresia / diagnosis
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Choanal Atresia / genetics
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Choanal Atresia / therapy
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Coloboma / complications
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Coloboma / diagnosis
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Coloboma / genetics
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Coloboma / therapy
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Ear / abnormalities
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Female
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Genitalia / abnormalities
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Growth Disorders / complications
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Growth Disorders / diagnosis
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Growth Disorders / genetics
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Growth Disorders / therapy
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Heart Defects, Congenital / complications
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Heart Defects, Congenital / diagnosis
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Heart Defects, Congenital / genetics
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Heart Defects, Congenital / therapy
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Humans
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Infant, Newborn
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Male
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Syndrome