[The CHARGE association].
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.
Finel
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Service de pédiatrie et génétique médicale, CHU Morvan, Brest, France.
Parent
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Giroux
J D
JD
de Parscau
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D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000235:genetics / Q000628:therapy; D002754:Choanal Atresia / Q000150:complications / Q000175:diagnosis / Q000235:genetics / Q000628:therapy; D003103:Coloboma / Q000150:complications / Q000175:diagnosis / Q000235:genetics / Q000628:therapy; D004423:Ear / Q000002:abnormalities; D005260:Female; D005835:Genitalia / Q000002:abnormalities; D006130:Growth Disorders / Q000150:complications / Q000175:diagnosis / Q000235:genetics / Q000628:therapy; D006330:Heart Defects, Congenital / Q000150:complications / Q000175:diagnosis / Q000235:genetics / Q000628:therapy; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D013577:Syndrome
L'association CHARGE.