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PubMed · 2682517

[The CHARGE association].

C Allouche·P Sarda·F Tronc·J Jalaguier·F Montoya·H Bonnet
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Abstract

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.

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Abnormalities, MultipleChildChild, PreschoolChoanal AtresiaColobomaEarFemaleHeart Defects, CongenitalHumansInfantInfant, NewbornKaryotypingMalePrognosisSyndromeEnglish AbstractJournal ArticleReview

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C Allouche, P Sarda, F Tronc, J Jalaguier, F Montoya, H Bonnet. 1989. [The CHARGE association].. https://pubmed.ncbi.nlm.nih.gov/2682517/

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