CHARGE Association

1 November 1982

journal article
Published by American Academy of Pediatrics (AAP) in Pediatrics

Vol. 70 (5) , 827-828
https://doi.org/10.1542/peds.70.5.827b

Abstract

Bartoshesky et al¹ reported a male infant with bilateral ocular coloboma, complex cardiac malformations, hypoplastic genitalia, unilateral microtia with an incompletely formed helix, facial asymmetry, and bilateral cleft lip and palate. They ascribed the etiology of the malformations to in utero diphenylhydantoin exposure. Subsequent to the submission of their paper, we reported our experience with 23 patients with a similar constellation of anomalies.2 We have termed this nonrandom combination of malformations the CHARGE association, a mnemonic (C-coloboma, H-heart disease, A-atresia choanae, R-retarded growth and/or development, G-genital hypoplasia, and E-ear anomalies and/or deafness).

Keywords

CHARGE SYNDROME

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