{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,12]],"date-time":"2026-03-12T14:05:16Z","timestamp":1773324316658,"version":"3.50.1"},"reference-count":37,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2005,1,6]],"date-time":"2005-01-06T00:00:00Z","timestamp":1104969600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2005,3,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>CHARGE syndrome was independently reported by Hall [(1979): J Pediatr 95:395\u2013398] and Hittner et al. [(1979): J Pediatr Ophthalmol Strabismus 16:122\u2013128] and was initially considered to be a non\u2010random association between distinct multiple congenital anomalies. It is now considered to be a recognizable syndrome with well\u2010characterized diagnostic criteria and a genetic pathogenesis. We report on a 33\u2010year\u2010old adult male with CHARGE syndrome, with emphasis on the unique medical, behavioral, and psychological issues faced in adulthood. Characteristic facial and ear abnormalities were obvious in early childhood, and bilateral retinal colobomata, left choanal atresia, right congenital hip dislocation, and hypogonadism were diagnosed during the first year. Walking was delayed due to vestibular problems, speech was impaired due to moderately severe hearing loss, and use of sign communication was limited. Choanal atresia was surgically corrected in infancy, and atrial septal defect, ventricular septal defect, and patent ductus arteriosus were surgically corrected in childhood. Undescended testes were removed in adolescence, and gallstones were removed in early adulthood. Puberty was delayed until hormone replacement therapy began at 15 years. Behavioral disturbances and anxiety persisted throughout childhood, adolescence, and into adulthood, often resulting from communication challenges. At 33 years of age, he lives independently in a supervised group home, receives regular eye check\u2010ups and is being monitored for severely reduced bone density. \u00a9 2005 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.30565","type":"journal-article","created":{"date-parts":[[2005,1,6]],"date-time":"2005-01-06T19:59:58Z","timestamp":1105041598000},"page":"344-349","source":"Crossref","is-referenced-by-count":23,"title":["CHARGE syndrome from birth to adulthood: An individual reported on from 0 to 33 years"],"prefix":"10.1002","volume":"133A","author":[{"given":"Lisa C.","family":"Searle","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"suffix":"Jr","given":"John M.","family":"Graham","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chitra","family":"Prasad","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kim D.","family":"Blake","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,1,6]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1007\/s004319900409"},{"key":"e_1_2_5_3_1","first-page":"27A","article-title":"CHARGE into the adolescent and adult decades","volume":"7","author":"Abi Daoud MS","year":"2002","journal-title":"Paediatr Child Health"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1651-2227.1991.tb11866.x"},{"key":"e_1_2_5_5_1","first-page":"80A","article-title":"CHARGE association anomalies in siblings","volume":"34","author":"Awrich PD","year":"1982","journal-title":"Am Hum Genet"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2214.1993.tb00744.x"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/0167-5273(89)90225-8"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1136\/adc.65.2.217"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1136\/adc.68.4.508"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1177\/000992289803700302"},{"key":"e_1_2_5_11_1","first-page":"69","article-title":"Charge syndrome: Long\u2010term survival. 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