[The CHARGE association]

Pediatrie. 1989;44(5):391-5.
[Article in French]

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.

Publication types

  • English Abstract
  • Review

MeSH terms

  • Abnormalities, Multiple*
  • Child
  • Child, Preschool
  • Choanal Atresia / complications*
  • Coloboma / complications*
  • Ear / abnormalities
  • Female
  • Heart Defects, Congenital / complications*
  • Humans
  • Infant
  • Infant, Newborn
  • Karyotyping
  • Male
  • Prognosis
  • Syndrome