{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,21]],"date-time":"2026-09-21T01:58:53Z","timestamp":1789955933291,"version":"4.0.1"},"reference-count":39,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2012,4,30]],"date-time":"2012-04-30T00:00:00Z","timestamp":1335744000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2013,2]]},"abstract":"<jats:p>Husu E, Hove HD, Farholt S, Bille M, Tranebj\u00e6rg L, Vogel I, Kreiborg S. Phenotype in 18 Danish subjects with genetically verified CHARGE syndrome.<\/jats:p><jats:p>CHARGE (<jats:italic>c<\/jats:italic>oloboma of the eye, <jats:italic>h<\/jats:italic>eart defects, choanal <jats:italic>a<\/jats:italic>tresia, <jats:italic>r<\/jats:italic>etarded growth and development, <jats:italic>g<\/jats:italic>enital hypoplasia and <jats:italic>e<\/jats:italic>ar anomalies and\/or hearing loss) syndrome is a rare genetic, multiple\u2010malformation syndrome. About 80% of patients with a clinical diagnose, have a mutation or a deletion in the gene encoding chromodomain helicase DNA\u2010binding protein 7 (<jats:italic>CHD7<\/jats:italic>). Genotype\u2013phenotype correlation is only partly known. In this nationwide study, phenotypic characteristics of 18 Danish <jats:italic>CHD7<\/jats:italic> mutation positive CHARGE individuals (<jats:italic>N<\/jats:italic> = 18) are presented. We studied patient records, clinical photographs, computed tomography, and magnetic resonance imaging (MRI). Information was not available for all traits in all subjects. Therefore, the results are presented as fractions. The following prevalence of cardinal symptoms were found: coloboma, 16\/17; heart defects, 14\/18; choanal atresia, 7\/17; retarded growth and development, 11\/13; genital abnormalities, 5\/18; ear anomalies, 15\/17 and sensorineural hearing loss, 14\/15. Vestibular dysfunction (10\/13) and swallowing problems (12\/15) were other frequent cranial nerve dysfunctions. Three\u2010dimensional reconstructions of MRI scans showed temporal bone abnormalities in &gt;85%. CHARGE syndrome present a broad phenotypic spectrum, although some clinical features are more frequently occurring than others. Here, we suggest that genetic testing for <jats:italic>CHD7<\/jats:italic> mutation should be considered in neonates with a specific combination of several clinical symptoms.<\/jats:p>","DOI":"10.1111\/j.1399-0004.2012.01884.x","type":"journal-article","created":{"date-parts":[[2012,3,31]],"date-time":"2012-03-31T19:24:48Z","timestamp":1333221888000},"page":"125-134","source":"Crossref","is-referenced-by-count":36,"title":["Phenotype in 18 Danish subjects with genetically verified CHARGE syndrome"],"prefix":"10.1111","volume":"83","author":[{"given":"E","family":"Husu","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"HD","family":"Hove","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S","family":"Farholt","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M","family":"Bille","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L","family":"Tranebj\u00e6rg","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"I","family":"Vogel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S","family":"Kreiborg","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2012,4,30]]},"reference":[{"key":"e_1_2_9_2_2","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2005.036061"},{"key":"e_1_2_9_3_2","doi-asserted-by":"publisher","DOI":"10.1086\/500273"},{"key":"e_1_2_9_4_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(79)80513-2"},{"issue":"2","key":"e_1_2_9_5_2","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\u2013a syndrome.","volume":"16","author":"Hittner HM","year":"1979","journal-title":"J Pediatr Ophthalmol Strabismus"},{"key":"e_1_2_9_6_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(81)80454-4"},{"key":"e_1_2_9_7_2","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-1-34"},{"key":"e_1_2_9_8_2","doi-asserted-by":"publisher","DOI":"10.1177\/000992289803700302"},{"key":"e_1_2_9_9_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30560"},{"key":"e_1_2_9_10_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30559"},{"key":"e_1_2_9_11_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33323"},{"key":"e_1_2_9_12_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng1407"},{"key":"e_1_2_9_13_2","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.94.21.11472"},{"key":"e_1_2_9_14_2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddq189"},{"key":"e_1_2_9_15_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2010.01446.x"},{"key":"e_1_2_9_16_2","doi-asserted-by":"publisher","DOI":"10.1242\/dev.047894"},{"key":"e_1_2_9_17_2","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.1001023"},{"key":"e_1_2_9_18_2","doi-asserted-by":"publisher","DOI":"10.1038\/nature08733"},{"key":"e_1_2_9_19_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31921"},{"key":"e_1_2_9_20_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2007.00821.x"},{"key":"e_1_2_9_21_2","unstructured":"LalaniSR HefnerMA BelmontJW DavenportSLH.CHARGE syndrome.GeneReview fromwww.ncbi.nlm.nih.gov\/books\/NBK1117. Accessed on February 2 2012."},{"key":"e_1_2_9_22_2","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19980413)76:5<402::AID-AJMG7>3.0.CO;2-O"},{"key":"e_1_2_9_23_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2009.01334.x"},{"key":"e_1_2_9_24_2","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2010.087106"},{"issue":"5","key":"e_1_2_9_25_2","first-page":"402","article-title":"Molecular diagnosis of CHARGE syndrom.","volume":"169","author":"Pedersen AM","year":"2007","journal-title":"Ugeskr Laeger"},{"key":"e_1_2_9_26_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2010.07.002"},{"key":"e_1_2_9_27_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30541"},{"key":"e_1_2_9_28_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaapos.2008.02.009"},{"issue":"8","key":"e_1_2_9_29_2","first-page":"1663","article-title":"Absent semicircular canals in CHARGE syndrome: radiologic spectrum of findings.","volume":"27","author":"Morimoto AK","year":"2006","journal-title":"AJNR Am J Neuroradiol"},{"key":"e_1_2_9_30_2","doi-asserted-by":"publisher","DOI":"10.1007\/s10897-010-9328-7"},{"key":"e_1_2_9_31_2","doi-asserted-by":"publisher","DOI":"10.3109\/14992020903311388"},{"key":"e_1_2_9_32_2","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5201778"},{"key":"e_1_2_9_33_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30545"},{"key":"e_1_2_9_34_2","doi-asserted-by":"publisher","DOI":"10.1080\/09297040600850944"},{"key":"e_1_2_9_35_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32179"},{"key":"e_1_2_9_36_2","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0024511"},{"key":"e_1_2_9_37_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2010.08.032"},{"key":"e_1_2_9_38_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2009.03.017"},{"key":"e_1_2_9_39_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32008"},{"key":"e_1_2_9_40_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1651-2227.2008.01077.x"}],"container-title":["Clinical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fj.1399-0004.2012.01884.x","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/j.1399-0004.2012.01884.x","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,30]],"date-time":"2023-10-30T03:37:21Z","timestamp":1698637041000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/j.1399-0004.2012.01884.x"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2012,4,30]]},"references-count":39,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2013,2]]}},"alternative-id":["10.1111\/j.1399-0004.2012.01884.x"],"URL":"https:\/\/doi.org\/10.1111\/j.1399-0004.2012.01884.x","archive":["Portico"],"relation":{},"ISSN":["0009-9163","1399-0004"],"issn-type":[{"value":"0009-9163","type":"print"},{"value":"1399-0004","type":"electronic"}],"subject":[],"published":{"date-parts":[[2012,4,30]]}}}