[Choanal atresia and CHARGE syndrome].
The acronym CHARGE names a syndrome described by Pagon et Graham in 1981, which associates mainly ocular anomalies, i.e. coloboma, and uni or bilateral choanal atresia. We report three observations of children with choanal atresia confirmed by CT scan. One child exhibited all the signs of the CHARGE syndrome including cerebral involvement at autopsy.
Dalphin
M L
ML
Service de pédiatrie, CHU, Besançon, France.
Noir
A
A
Menget
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D000015:Abnormalities, Multiple; D001921:Brain / Q000002:abnormalities; D002754:Choanal Atresia / Q000150:complications* / Q000000981:diagnostic imaging; D003103:Coloboma / Q000150:complications; D004423:Ear / Q000002:abnormalities; D005260:Female; D005835:Genitalia / Q000002:abnormalities; D006330:Heart Defects, Congenital / Q000150:complications; D006801:Humans; D007231:Infant, Newborn; D013577:Syndrome; D014057:Tomography, X-Ray Computed
Atrésie des choanes et syndrome CHARGE.