Coloboma, congenital heart disease, and choanal atresia with multiple anomalies: CHARGE association

Roberta A. Pagon, John M. Graham, Jonathan (Jon) Zonana, Siu Li Yong

Research output: Contribution to journalArticle

564 Citations (Scopus)

Abstract

We report 21 patients with choanal atresia or ocular coloboma or both who have certain other associated anomalies, including congenital heart disease, postnatal growth deficiency, mental retardation and/or CNS anomalies, microphallus and cryptorchidism, and ear anomalies and/or deafness. Facial palsy, micrognathia, cleft palate, and swallowing difficulties were also common. It has not been possible to define a single etiology or a syndrome in these patients. We propose the mnemonic CHARGE (C-coloboma, H-heart disease, A-atresia choanae, R-retarded growth and retarded development and/or CNS anomalies, G-genital hypoplasia, and E-ear anomalies and/or deafness) to describe the features of this association.

Original languageEnglish (US)
Pages (from-to)223-227
Number of pages5
JournalThe Journal of Pediatrics
Volume99
Issue number2
DOIs
StatePublished - 1981

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CHARGE Syndrome
Choanal Atresia
Coloboma
Deafness
Micrognathism
Ear
Heart Diseases
Cryptorchidism
Nasopharynx
Facial Paralysis
Cleft Palate
Deglutition
Growth and Development
Intellectual Disability
Growth

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

Cite this

Coloboma, congenital heart disease, and choanal atresia with multiple anomalies : CHARGE association. / Pagon, Roberta A.; Graham, John M.; Zonana, Jonathan (Jon); Yong, Siu Li.

In: The Journal of Pediatrics, Vol. 99, No. 2, 1981, p. 223-227.

Research output: Contribution to journalArticle

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