{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,11]],"date-time":"2026-04-11T04:11:17Z","timestamp":1775880677074,"version":"3.50.1"},"reference-count":40,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2017,2,2]],"date-time":"2017-02-02T00:00:00Z","timestamp":1485993600000},"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":[[2017,7]]},"abstract":"<jats:p><jats:styled-content style=\"fixed-case\">CHARGE<\/jats:styled-content> syndrome is an autosomal dominant disorder that occurs as a result of a heterozygous loss\u2010of\u2010function mutation in the chromodomain helicase <jats:styled-content style=\"fixed-case\">DNA<\/jats:styled-content>\u2010binding (<jats:italic><jats:styled-content style=\"fixed-case\">CHD7<\/jats:styled-content><\/jats:italic>) gene, which is important for neural crest cell formation. Gastrointestinal (<jats:styled-content style=\"fixed-case\">GI<\/jats:styled-content>) symptoms and feeding difficulties are highly prevalent but are often a neglected area of diagnosis, treatment, and research. Cranial nerve dysfunction, craniofacial abnormalities, and other physical manifestations of this syndrome lead to gut dysmotility, sensory impairment, and oral\u2013motor function abnormalities. Over 90% of children need tube feeding early in their life and many experience weak sucking\/chewing, gastroesophageal reflux disease (<jats:styled-content style=\"fixed-case\">GERD<\/jats:styled-content>), and aspiration. The mainstay of treatment thus far has consisted of feeding therapy, <jats:styled-content style=\"fixed-case\">GERD<\/jats:styled-content> medications, Nissen fundoplication, gastrostomy\/jejunostomy, and food texture limitation. Owing to the multitude of severe medical issues associated with this genetic disorder, <jats:styled-content style=\"fixed-case\">GI<\/jats:styled-content> involvement is often overlooked. Here, we report on five patients with <jats:styled-content style=\"fixed-case\">CHARGE<\/jats:styled-content> syndrome who manifested a range of severe <jats:styled-content style=\"fixed-case\">GI<\/jats:styled-content> and feeding difficulties.<\/jats:p>","DOI":"10.1111\/cge.12892","type":"journal-article","created":{"date-parts":[[2016,10,14]],"date-time":"2016-10-14T02:27:24Z","timestamp":1476412044000},"page":"10-17","source":"Crossref","is-referenced-by-count":15,"title":["<scp>CHARGE<\/scp> syndrome gastrointestinal involvement: from mouth to anus"],"prefix":"10.1111","volume":"92","author":[{"given":"A.","family":"Hudson","sequence":"first","affiliation":[{"name":"Dalhousie Medical School  Halifax Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.","family":"Macdonald","sequence":"additional","affiliation":[{"name":"Dalhousie Medical School  Halifax Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J.N.","family":"Friedman","sequence":"additional","affiliation":[{"name":"Department of Pediatrics The Hospital for Sick Children, University of Toronto  Toronto Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"K.","family":"Blake","sequence":"additional","affiliation":[{"name":"Division of Medical Education Dalhousie University Faculty of Medicine  Halifax Canada"},{"name":"Department of Pediatrics IWK Health Centre  Halifax Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2017,2,2]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2015.15"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1111\/jpc.12497"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(79)80513-2"},{"issue":"2","key":"e_1_2_5_5_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 \u2013 a syndrome","volume":"16","author":"Hittner HM","year":"1979","journal-title":"J Pediatr Ophthalmol Strabismus"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1177\/000992289803700302"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1407"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-1-34"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00455-004-0026-1"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00455-007-9111-6"},{"key":"e_1_2_5_11_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2009.01334.x"},{"key":"e_1_2_5_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ijporl.2016.01.009"},{"key":"e_1_2_5_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32179"},{"key":"e_1_2_5_14_1","first-page":"856","article-title":"Modeling CHARGE syndrome in zebrafish: a look at the innervation and function of the gastrointestinal system. 12th International CHARGE Syndrome Conference","volume":"170","author":"Cloney K","journal-title":"Am J Med Genet Part A"},{"key":"e_1_2_5_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.37435"},{"key":"e_1_2_5_16_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30560"},{"key":"e_1_2_5_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.pedn.2014.09.008"},{"key":"e_1_2_5_18_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ijporl.2012.02.061"},{"key":"e_1_2_5_19_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ijporl.2008.10.005"},{"key":"e_1_2_5_20_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ijcha.2016.05.015"},{"key":"e_1_2_5_21_1","doi-asserted-by":"publisher","DOI":"10.1177\/0145445514550683"},{"key":"e_1_2_5_22_1","doi-asserted-by":"publisher","DOI":"10.1901\/jaba.2012.45-97"},{"key":"e_1_2_5_23_1","doi-asserted-by":"publisher","DOI":"10.1901\/jaba.2005.161-02"},{"key":"e_1_2_5_24_1","doi-asserted-by":"publisher","DOI":"10.1111\/jpc.13012"},{"key":"e_1_2_5_25_1","doi-asserted-by":"publisher","DOI":"10.14740\/jocmr2288w"},{"key":"e_1_2_5_26_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ijporl.2005.03.030"},{"key":"e_1_2_5_27_1","doi-asserted-by":"publisher","DOI":"10.3174\/ajnr.A1099"},{"key":"e_1_2_5_28_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31670"},{"key":"e_1_2_5_29_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33241"},{"key":"e_1_2_5_30_1","doi-asserted-by":"publisher","DOI":"10.1177\/0264619612443883"},{"key":"e_1_2_5_31_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3468(98)90363-3"},{"key":"e_1_2_5_32_1","first-page":"856","volume-title":"12th International CHARGE Syndrome Conference Proceedings, Am J Med Genet Part A","author":"Macdonald M"},{"key":"e_1_2_5_33_1","doi-asserted-by":"publisher","DOI":"10.1002\/ddrr.19"},{"key":"e_1_2_5_34_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2014-1630"},{"key":"e_1_2_5_35_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30546"},{"key":"e_1_2_5_36_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30545"},{"key":"e_1_2_5_37_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30544"},{"key":"e_1_2_5_38_1","doi-asserted-by":"publisher","DOI":"10.1177\/000992280504400207"},{"key":"e_1_2_5_39_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.37769"},{"key":"e_1_2_5_40_1","doi-asserted-by":"publisher","DOI":"10.1177\/0115426504019004403"},{"key":"e_1_2_5_41_1","doi-asserted-by":"publisher","DOI":"10.1097\/MPG.0000000000000414"}],"container-title":["Clinical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fcge.12892","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fcge.12892","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cge.12892","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,2]],"date-time":"2023-10-02T22:18:47Z","timestamp":1696285127000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/cge.12892"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,2,2]]},"references-count":40,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2017,7]]}},"alternative-id":["10.1111\/cge.12892"],"URL":"https:\/\/doi.org\/10.1111\/cge.12892","archive":["Portico"],"relation":{},"ISSN":["0009-9163","1399-0004"],"issn-type":[{"value":"0009-9163","type":"print"},{"value":"1399-0004","type":"electronic"}],"subject":[],"published":{"date-parts":[[2017,2,2]]}}}