{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,18]],"date-time":"2026-09-18T04:41:13Z","timestamp":1789706473298,"version":"4.0.1"},"reference-count":17,"publisher":"American Academy of Pediatrics (AAP)","issue":"3","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[1997,3,1]]},"abstract":"<jats:p>Objective.\u2003To present epidemiologic data on the relatively rare malformation choanal atresia, based on a large collection of material and with special stress on the significance of the so-called CHARGE (coloboma, heart defect, choanal atresia, retarded growth and development, genital anomaly, and ear defect with deafness) association.<\/jats:p><jats:p>Methods.\u2003Data from three large registries of congenital malformations were used. Based on more than 5 million births, 444 infants with choanal atresia were identified.<\/jats:p><jats:p>Results.\u2003The average rate of choanal atresia is 0.82 per 10\u2009000 and varies among programs. There is no statistically significant difference between races in rates, even though white infants have a higher rate than those of other races. The higher rate found in the California program is mainly attributable to unilateral, isolated cases. Unilateral atresia occurs equally often on the right and left. Among all cases of choanal atresia, the sex distribution is normal, a slightly increased risk at twinning exists, and no effect of maternal age or parity is seen. Chromosome anomalies are found in 6% of infants with choanal atresia, and 21 infants (5%) have monogenic syndromes or conditions. An analysis of associated malformations (present in 47% of the infants without chromosome anomalies) indicated that although a weak nonrandom association can be demonstrated between the malformations entering the so-called CHARGE complex, only a small proportion of infants with choanal atresia and other components of that condition probably represent this entity. The term CHARGE association seems to be overused in clinical practice.<\/jats:p><jats:p>Conclusion.\u2003To be meaningful, the term CHARGE should be restricted to infants with multiple malformations and choanal atresia and\/or coloboma combined with other cardinal malformations (heart, ear, and genital) and with a total of at least three cardinal malformations. Growth retardation should not be used in the definition.<\/jats:p>","DOI":"10.1542\/peds.99.3.363","type":"journal-article","created":{"date-parts":[[2004,8,13]],"date-time":"2004-08-13T23:40:17Z","timestamp":1092440417000},"page":"363-367","source":"Crossref","is-referenced-by-count":126,"title":["Epidemiology of Choanal Atresia With Special Reference to the CHARGE Association"],"prefix":"10.1542","volume":"99","author":[{"given":"John","family":"Harris","sequence":"first","affiliation":[{"name":"From the California Birth Defects Monitoring Program, Emeryville;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elisabeth","family":"Robert","sequence":"additional","affiliation":[{"name":"Institut Europe\u0301en des Ge\u0301nomutations, Lyon, France; and"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bengt","family":"Ka\u0308lle\u0301n","sequence":"additional","affiliation":[{"name":"Tornblad Institute, University of Lund, Lund, Sweden."}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"417","published-online":{"date-parts":[[1997,3,1]]},"reference":[{"key":"2021120819204018900_B1","doi-asserted-by":"crossref","first-page":"223","DOI":"10.1016\/S0022-3476(81)80454-4","article-title":"Coloboma, congenital heart disease, and choanal atresia with multiple anomalies: CHARGE association.","volume":"99","author":"Pagon","year":"1981","journal-title":"J Pediatr"},{"key":"2021120819204018900_B2","doi-asserted-by":"crossref","first-page":"298","DOI":"10.1111\/j.1399-0004.1986.tb01258.x","article-title":"The spectrum and clinical features in CHARGE syndrome.","volume":"29","author":"Davenport","year":"1986","journal-title":"Clin Genet"},{"key":"2021120819204018900_B3","doi-asserted-by":"crossref","first-page":"129","DOI":"10.1016\/0165-5876(88)90063-8","article-title":"Choanal atresia and associated anomalies: the CHARGE association.","volume":"15","author":"Duncan","year":"1988","journal-title":"Int J Pediatr Otorhinolaryngol"},{"key":"2021120819204018900_B4","first-page":"601","article-title":"Le registre de malformations de la re\u0301gion Rhone-Alpes\/Auvergne. Inte\u0301ret et limites de la te\u0301ratovigilance. Onze anne\u0301es d'expe\u0301rience (1976\u20131986).","volume":"17","author":"Robert","year":"1988","journal-title":"J Gynecol Obstet Biol Reprod (Paris)"},{"key":"2021120819204018900_B5","doi-asserted-by":"crossref","first-page":"47","DOI":"10.1002\/tera.1420350108","article-title":"Search for teratogenic risks with the aid of malformation registries.","volume":"35","author":"Ka\u0308lle\u0301n","year":"1987","journal-title":"Teratology"},{"key":"2021120819204018900_B6","doi-asserted-by":"crossref","first-page":"423","DOI":"10.1111\/j.1365-3016.1991.tb00728.x","article-title":"Birth defects monitoring in California: a resource for epidemiologic research.","volume":"5","author":"Croen","year":"1991","journal-title":"Paediatr Perinat Epidemiol"},{"key":"2021120819204018900_B7"},{"key":"2021120819204018900_B8","doi-asserted-by":"crossref","first-page":"765","DOI":"10.1542\/peds.41.4.765","article-title":"A Swedish register of congenital malformations. 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