{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T16:37:11Z","timestamp":1790786231540,"version":"4.1.0"},"reference-count":15,"publisher":"BMJ","issue":"7","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2020,7,1]]},"published-print":{"date-parts":[[2020,7]]},"abstract":"<jats:p>We report a case of CHARGE syndrome with atypical phenotype and a novel mutation in the CHD7 gene. Laryngomalacia and swallowing difficulties are prominent features in this case. These are commonly found in patients with CHARGE syndrome and are well described in previous studies. However, with the traditional diagnostic criteria, diagnosis is difficult without the presence of coloboma or choanal atresia. Early diagnosis is possible with the aid of clinical genetics. The current diagnostic criteria would need to be broadened with the inclusion of pathogenic CHD7 variant status as a major criterion. Further research on the function of CHD7 gene may also give us more insight on the pathogenic mechanism of various clinical features of CHARGE syndrome.<\/jats:p>","DOI":"10.1136\/bcr-2019-233037","type":"journal-article","created":{"date-parts":[[2020,7,23]],"date-time":"2020-07-23T02:15:25Z","timestamp":1595470525000},"page":"e233037","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":1,"title":["CHARGE syndrome patient with novel CHD7 mutation presenting with severe laryngomalacia and feeding difficulty"],"prefix":"10.1136","volume":"13","author":[{"given":"Cheuk Lam","family":"Lau","sequence":"first","affiliation":[{"name":"Department of Paediatrics and Adolescent Medicine, University of Hong Kong, Hong Kong, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuet Yee","family":"Chee","sequence":"additional","affiliation":[{"name":"Department of Paediatrics and Adolescent Medicine, University of Hong Kong, Hong Kong, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1381-5391","authenticated-orcid":false,"given":"Brian Hon Yin","family":"Chung","sequence":"additional","affiliation":[{"name":"Department of Paediatrics and Adolescent Medicine, University of Hong Kong, Hong Kong, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ming Sum Rosanna","family":"Wong","sequence":"additional","affiliation":[{"name":"Department of Paediatrics and Adolescent Medicine, University of Hong Kong, Hong Kong, China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[2020,7,22]]},"reference":[{"key":"2025082708433060000_13.7.e233037.1","doi-asserted-by":"publisher","DOI":"10.1177\/000992289803700302"},{"key":"2025082708433060000_13.7.e233037.2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30559"},{"key":"2025082708433060000_13.7.e233037.3","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(79)80513-2"},{"key":"2025082708433060000_13.7.e233037.4","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--a syndrome","volume":"16","author":"Hittner","year":"1979","journal-title":"J Pediatr Ophthalmol Strabismus"},{"key":"2025082708433060000_13.7.e233037.5","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(81)80454-4"},{"key":"2025082708433060000_13.7.e233037.6","doi-asserted-by":"publisher","DOI":"10.1002\/1096-8628(2000)9999:999<00::AID-AJMG1132>3.0.CO;2-J"},{"key":"2025082708433060000_13.7.e233037.7","doi-asserted-by":"publisher","DOI":"10.1038\/ng1407"},{"key":"2025082708433060000_13.7.e233037.8","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"2025082708433060000_13.7.e233037.9","doi-asserted-by":"crossref","first-page":"1815","DOI":"10.1002\/ajmg.a.31851","article-title":"Upper airway obstruction in neonates and infants with CHARGE syndrome","volume":"143A","author":"Naito","year":"2007","journal-title":"Am J Med Genet A"},{"key":"2025082708433060000_13.7.e233037.10","doi-asserted-by":"publisher","DOI":"10.1001\/archotol.1993.01880130051006"},{"key":"2025082708433060000_13.7.e233037.11","doi-asserted-by":"publisher","DOI":"10.1016\/j.ijporl.2005.03.030"},{"key":"2025082708433060000_13.7.e233037.12","doi-asserted-by":"publisher","DOI":"10.1002\/lary.23682"},{"key":"2025082708433060000_13.7.e233037.13","doi-asserted-by":"publisher","DOI":"10.1161\/CIRCGENETICS.113.000054"},{"key":"2025082708433060000_13.7.e233037.14","doi-asserted-by":"crossref","first-page":"344","DOI":"10.1002\/ajmg.a.37435","article-title":"Atypical phenotypes associated with pathogenic CHD7 variants and a proposal for broadening CHARGE syndrome clinical diagnostic criteria","volume":"170A","author":"Hale","year":"2016","journal-title":"Am J Med Genet A"},{"key":"2025082708433060000_13.7.e233037.15","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22086"}],"container-title":["BMJ Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bcr-2019-233037","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,8,27]],"date-time":"2025-08-27T15:43:37Z","timestamp":1756309417000},"score":1,"resource":{"primary":{"URL":"https:\/\/casereports.bmj.com\/lookup\/doi\/10.1136\/bcr-2019-233037"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,7]]},"references-count":15,"journal-issue":{"issue":"7","published-online":{"date-parts":[[2020,7,22]]},"published-print":{"date-parts":[[2020,7]]}},"alternative-id":["10.1136\/bcr-2019-233037"],"URL":"https:\/\/doi.org\/10.1136\/bcr-2019-233037","relation":{},"ISSN":["1757-790X"],"issn-type":[{"value":"1757-790X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020,7]]}}}