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

RA Pagon, JM Graham Jr, J Zonana, SL Yong - The Journal of pediatrics, 1981 - Elsevier
RA Pagon, JM Graham Jr, J Zonana, SL Yong
The Journal of pediatrics, 1981Elsevier
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 …
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.
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