{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,28]],"date-time":"2026-07-28T17:50:06Z","timestamp":1785261006534,"version":"3.55.0"},"reference-count":6,"publisher":"BMJ","issue":"3","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1988,3]]},"abstract":"<jats:p>We describe 14 boys and six girls, including monozygotic twins, with the CHARGE association. All of the children had at least four of the seven major features included in the mnemonic CHARGE and all had ear anomalies or deafness or both and either coloboma or choanal atresia or both. All the boys had evidence of hypogonadism. A characteristic facial appearance (unusually shaped ears, unilateral facial palsy, square face, malar flattening, pinched nostrils) was observed in many of our cases. The aetiology remains unknown. All our cases are sporadic.<\/jats:p>","DOI":"10.1136\/jmg.25.3.147","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:11:11Z","timestamp":1226329871000},"page":"147-156","source":"Crossref","is-referenced-by-count":85,"title":["A reappraisal of the CHARGE association."],"prefix":"10.1136","volume":"25","author":[{"given":"C A","family":"Oley","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M","family":"Baraitser","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D B","family":"Grant","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[1988,3,1]]},"reference":[{"issue":"99","key":"ref_1","first-page":"223","article-title":"congenital hcart discasc and choainail aitrcsiai with multiplc ainomailics: CHARGE association","volume":"1981","author":"Colobomiaii, Pagon R.A.Graham J.M.Zonaina J.I.Yong S.","unstructured":"Pagon RA. Graham JM. Zonaina JI. Yong S. Colobomiaii. congenital hcart discasc and choainail aitrcsiai with multiplc ainomailics: CHARGE association. J Pedliatr 1981:99:223-7.","journal-title":"J Pedliatr"},{"key":"ref_2","first-page":"137","article-title":"The spcctrum of clinicatl fcaturcs in Chiargc syndrome. Clih Genet 1986: 29: 298-3 1). Smith DW. Rec-ogniizable pattermis of Ihumanm deforonationm","author":"JA, Davenport S.L.H.Hefncr M.A.Mitchell","year":"1981","unstructured":"Davenport SLH. Hefncr MA. Mitchell JA. The spcctrum of clinicatl fcaturcs in Chiargc syndrome. Clih Genet 1986:29: 298-3 1). Smith DW. Rec-ogniizable pattermis of Ihumanm deforonationm. Philadelphia: Saunders. 1981:137-8."},{"key":"ref_3","first-page":"16","article-title":"Colobomattous microphthalmia. heart discasc. hcaring loss aind mental rctardation-a syndromc","volume":"1979","author":"Hittncr, H.M.; Hirsch, N.J.; Rudolph, Krch G.M.; A.J.","unstructured":"Hittncr HM, Hirsch NJ, Krch GM. Rudolph AJ. Colobomattous microphthalmia. heart discasc. hcaring loss aind mental rctardation-a syndromc. J Pediair Oplithalhnol Strabisomus 1979;:16:122-8.","journal-title":"J Pediair Oplithalhnol Strabisomus"},{"key":"ref_4","first-page":"603","article-title":"Clomiphenc. ainnccphavly aind spinat bifida","volume":"1977","author":"Jimcs, W.H.","unstructured":"Jimcs WH. Clomiphenc. ainnccphavly aind spinat bifida. Lainicet 1977:i:603.","journal-title":"Lainicet"},{"issue":"140","key":"ref_5","first-page":"394","article-title":"Vietnam scrvice aind the risk of congenitall ainomaliilics","volume":"1984","author":"M, Donovain J.W.Miclcnntn R.Adcnai","unstructured":"Donovain JW. M.iclcnn.tn R. Adcnai M. Vietnam scrvice aind the risk of congenitall ainomaliilics. Med J Ai.st 1984:140:394-7.","journal-title":"Med J Ai.st"},{"key":"ref_6","article-title":"Langinan's inedical embryvology. 5th cd. Balltimorc: Williaims aind Wilkins","author":"Sadler, T.W.","year":"1985","unstructured":"Sadler TW. Langinan's inedical embryvology. 5th cd. Balltimorc: Williaims aind Wilkins. 1985."}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.25.3.147","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T06:40:08Z","timestamp":1760769608000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.25.3.147"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1988,3]]},"references-count":6,"journal-issue":{"issue":"3","published-online":{"date-parts":[[1988,3,1]]},"published-print":{"date-parts":[[1988,3]]}},"alternative-id":["10.1136\/jmg.25.3.147"],"URL":"https:\/\/doi.org\/10.1136\/jmg.25.3.147","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"value":"0022-2593","type":"print"},{"value":"1468-6244","type":"electronic"}],"subject":[],"published":{"date-parts":[[1988,3]]}}}