{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,13]],"date-time":"2026-02-13T17:17:23Z","timestamp":1771003043228,"version":"3.50.1"},"reference-count":13,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2005,6,4]],"date-time":"2005-06-04T00:00:00Z","timestamp":1117843200000},"content-version":"vor","delay-in-days":6670,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1987,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We report on a patient with CHARGE syndrome, as manifested by a coloboma of the optic nerve head, congenital heart defect (ASD, VSD, and parachute mitral valve), choanal atresia, severe growth retardation, genital hypoplasia, abnormal ears, cleft lip and palate, and pectus carinatum. His chromosomes were normal. He died at 19 months. His mother was short and had hearing impairment, choanal atresia, and a coloboma. We suggest that this represents evidence for dominant transmission of this disorder in this family. Other familial cases from the literature are reviewed.<\/jats:p>","DOI":"10.1002\/ajmg.1320260311","type":"journal-article","created":{"date-parts":[[2005,6,12]],"date-time":"2005-06-12T02:46:04Z","timestamp":1118544364000},"page":"577-581","source":"Crossref","is-referenced-by-count":53,"title":["Familial CHARGE syndrome: Clinical report with autopsy findings"],"prefix":"10.1002","volume":"26","author":[{"given":"Leon A.","family":"Metlay","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Peter S.","family":"Smythe","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marvin E.","family":"Miller","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"John M.","family":"Opitz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"James F.","family":"Reynolds","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,6,4]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.14.1.76"},{"key":"e_1_2_1_3_1","first-page":"80A","article-title":"CHARGE association anomalies in siblings","volume":"34","author":"Awrich PD","year":"1982","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_4_1","first-page":"90A","article-title":"Iq duplication due to unequal crossover in a patient with CHARGE association and DiGeorge sequence","volume":"37","author":"Dev VG","year":"1985","journal-title":"Am J Hum Genet"},{"issue":"3","key":"e_1_2_1_5_1","first-page":"1","article-title":"NCHS Growth Charts,1976","volume":"25","author":"Hamill PVV","year":"1976","journal-title":"Monthly Vital Statistics Report"},{"key":"e_1_2_1_6_1","doi-asserted-by":"crossref","first-page":"122","DOI":"10.3928\/0191-3913-19790301-10","article-title":"Colobomatous microphthalmia, heart disease, hearing loss, and mental retardation\u2010a syndrome","volume":"16","author":"Hittner HM","year":"1979","journal-title":"J Pediatr Ophthalmol Strabismus"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.12.3.289"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(73)80274-4"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.3109\/13816818509004114"},{"key":"e_1_2_1_10_1","first-page":"1058","article-title":"Prenatal diagnosis of interstitial deletion of short arm of chromosome 3m","volume":"36","author":"Mitter NS","year":"1984","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_11_1","first-page":"1068","article-title":"Familial partial trisomy of different segments of chromosome 6p and choanal atresia in 2 female infants","volume":"36","author":"Muneer R","year":"1984","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(81)80454-4"},{"key":"e_1_2_1_13_1","doi-asserted-by":"publisher","DOI":"10.3109\/15513818309025871"},{"key":"e_1_2_1_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(82)80261-8"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320260311","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320260311","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,27]],"date-time":"2023-09-27T04:06:20Z","timestamp":1695787580000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320260311"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1987,3]]},"references-count":13,"journal-issue":{"issue":"3","published-print":{"date-parts":[[1987,3]]}},"alternative-id":["10.1002\/ajmg.1320260311"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320260311","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1987,3]]}}}