[The CHARGE association].
The CHARGE association includes a group of several malformations, and always a coloboma and/or choanal atresia. We present 8 cases of this syndrome, 5 complete and 3 incomplete forms. Prognosis at term seems severe, considering the visceral malformations (namely cardiac) and the cerebral handicap often associated. In most cases the CHARGE association is a sporadic event; however, one cannot exclude the possibility that certain forms follow a Mendelian pattern of inheritance. The mechanisms leading to this association have not yet been elucidated: it is probably due to migration abnormalities of the neural crests as in the VATER association of Di George syndrome.
Allouche
C
C
Service de néonatologie et génétique médicale, hôpital Saint-Charles, Montpellier, France.
Sarda
P
P
Tronc
F
F
Jalaguier
J
J
Montoya
F
F
Bonnet
H
H
D000015:Abnormalities, Multiple; D002648:Child; D002675:Child, Preschool; D002754:Choanal Atresia / Q000150:complications*; D003103:Coloboma / Q000150:complications*; D004423:Ear / Q000002:abnormalities; D005260:Female; D006330:Heart Defects, Congenital / Q000150:complications*; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007621:Karyotyping; D008297:Male; D011379:Prognosis; D013577:Syndrome
L'association CHARGE.