PEDIATRICS Vol. 70 No. 5 November 1982, pp. 827-828
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CHARGE Association

Roberta A. Pagon MD1, Jonathan Zonana MD2, and John M. Graham Jr MD, ScD3

1 Division of Medical Genetics, Children's Orthopedic Hospital and Medical Center, PO Box C-5371, Seattle, WA 98105
2 Crippled Children's Division, Clinical Services Building, University of Oregon Health Sciences, 901 East 18th Eugene, OR 97403
3 Department of Maternal and Child Health, Dartmouth Medical School, Hanover, NH 03755

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).