{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,19]],"date-time":"2026-09-19T19:53:28Z","timestamp":1789847608894,"version":"4.0.1"},"reference-count":7,"publisher":"BMJ","issue":"3","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1991,3]]},"abstract":"<jats:p>We report on a male infant with congenital hypothyroidism owing to athyreosis occurring with the CHARGE association (bilateral papillary coloboma, congenital heart disease, dysmorphic ears, sensorineural deafness, psychomotor retardation, cryptorchidism, facial palsy, and vesicoureteral reflux). The coexistence of these two disorders has not been described previously.<\/jats:p>","DOI":"10.1136\/jmg.28.3.207","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:11:11Z","timestamp":1226329871000},"page":"207-208","source":"Crossref","is-referenced-by-count":11,"title":["The CHARGE association and athyreosis."],"prefix":"10.1136","volume":"28","author":[{"given":"J F","family":"Mar\u00edn","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"B","family":"Garc\u00eda","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A","family":"Quintana","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R","family":"Barrio","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M T","family":"Sordo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C","family":"Lozano","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[1991,3,1]]},"reference":[{"key":"ref_1","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, R.A.; Graham, J.M.; Zonana, J.; Yong, S.L.","year":"1981","unstructured":"Pagon RA, Graham JM, Zonana J, Yong SL. Coloboma, congenital heart disease and choanal atresia with multiple anomalies: CHARGE association. J Pediatr 1981;99:223-7.","journal-title":"J Pediatr"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"661","DOI":"10.1016\/S0030-6665(20)31424-9","article-title":"The CHARGE association: choanal atresia and multiple congenital anomalies","volume":"22","author":"Kaplan, L.C.","year":"1989","unstructured":"Kaplan LC. The CHARGE association: choanal atresia and multiple congenital anomalies. Otolaryngol Clin North Am 1989;22:661-72.","journal-title":"Otolaryngol Clin North Am"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"217","DOI":"10.1136\/adc.65.2.217","article-title":"Who's in CHARGE? Multidisciplinary management of patients with CHARGE association","volume":"65","author":"Blake, K.D.; Russeli-Eggitt, I.M.; Morgan, D.W.; Ratcliffe, J.M.; Wyse, R.K.H.","year":"1990","unstructured":"Blake KD, Russeli-Eggitt IM, Morgan DW, Ratcliffe JM, Wyse RKH. Who's in CHARGE? Multidisciplinary management of patients with CHARGE association. Arch Dis Child 1990;65: 217-23.","journal-title":"Arch Dis Child"},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"147","DOI":"10.1136\/jmg.25.3.147","article-title":"A reappraisal of the CHARGE association","volume":"25","author":"Oley, C.A.; Baraitser, M.; Grant, D.B.","year":"1988","unstructured":"Oley CA, Baraitser M, Grant DB. A reappraisal of the CHARGE association. J Med Genet 1988;25:147-56.","journal-title":"J Med Genet"},{"key":"ref_5","first-page":"90","article-title":"lq duplication due to unequal crossover in a patient with CHARGE association and DiGeorge sequence","volume":"37","author":"Dev, V.G.; Butler, M.G.; JA, III, Phillips","year":"1985","unstructured":"Dev VG, Butler MG, Phillips JA III. lq duplication due to unequal crossover in a patient with CHARGE association and DiGeorge sequence. AmJ Hum Genet 1985;37:90A.","journal-title":"AmJ Hum Genet"},{"key":"ref_6","first-page":"1010","article-title":"The pattern of cardiovascular malformation in the CHARGE association","volume":"141","author":"Lin, A.E.; Chin, A.J.; Devine, W.; Park, S.C.; Zackai, E.","year":"1987","unstructured":"Lin AE, Chin AJ, Devine W, Park SC, Zackai E. The pattern of cardiovascular malformation in the CHARGE association. AmJI Dis Child 1987;141:1010-3.","journal-title":"AmJI Dis Child"},{"key":"ref_7","first-page":"448","article-title":"Anatomic findings and management of choanal atresia and the CHARGE association","volume":"97","author":"Coniglio, J.U.; Manzione, J.V.; Hengerer, A.S.","year":"1988","unstructured":"Coniglio JU, Manzione JV, Hengerer AS. Anatomic findings and management of choanal atresia and the CHARGE association. Ann Otol Rhinol Laryngol 1988;97:448-53."}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.28.3.207","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,17]],"date-time":"2025-10-17T20:03:36Z","timestamp":1760731416000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.28.3.207"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1991,3]]},"references-count":7,"journal-issue":{"issue":"3","published-online":{"date-parts":[[1991,3,1]]},"published-print":{"date-parts":[[1991,3]]}},"alternative-id":["10.1136\/jmg.28.3.207"],"URL":"https:\/\/doi.org\/10.1136\/jmg.28.3.207","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"value":"0022-2593","type":"print"},{"value":"1468-6244","type":"electronic"}],"subject":[],"published":{"date-parts":[[1991,3]]}}}