TY - JOUR
T1 - Coloboma, congenital heart disease, and choanal atresia with multiple anomalies
T2 - CHARGE association
AU - Pagon, Roberta A.
AU - Graham, John M.
AU - Zonana, Jonathan
AU - Yong, Siu Li
N1 - Funding Information:
From the Departments of Pediatrics and Ophthalmology, University of Washington, Children's Orthopedic Hospital and Medical Center," the Departments of Pediatrics and Crippled Children "s Division, University of Oregon Health Sciences Center; and the Department of Medical Genetics, University of British Columbia. Supported by a postdoctoral fellowship from the Fight for Sight, Inc., New York, National Institutes of Health Grants No. HD 05961 and HD-O04-04, National Institute of ChiM Health and Human Development Grant No. HD 02274, and Public Health Service Grant No. GM 15253. *Reprint address: Division of Medical Genetics, Children k Orthopedic Hospital and Medical Center, P.O. Box C5371, 4800 Sandpoint Way N.E., Seattle, WA 98105.
PY - 1981/8
Y1 - 1981/8
N2 - 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.
AB - 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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U2 - 10.1016/S0022-3476(81)80454-4
DO - 10.1016/S0022-3476(81)80454-4
M3 - Article
C2 - 6166737
AN - SCOPUS:0019425377
SN - 0022-3476
VL - 99
SP - 223
EP - 227
JO - The Journal of pediatrics
JF - The Journal of pediatrics
IS - 2
ER -