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  • Title: Coloboma, congenital heart disease, and choanal atresia with multiple anomalies: CHARGE association.
    Author: Pagon RA, Graham JM, Zonana J, Yong SL.
    Journal: J Pediatr; 1981 Aug; 99(2):223-7. PubMed ID: 6166737.
    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.
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