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Article: CHARGE syndrome patient with novel CHD7 mutation presenting with severe laryngomalacia and feeding difficulty

TitleCHARGE syndrome patient with novel CHD7 mutation presenting with severe laryngomalacia and feeding difficulty
Authors
Issue Date2020
PublisherBMJ Group. The Journal's web site is located at http://casereports.bmj.com
Citation
BMJ Case Reports, 2020, v. 13, p. article no. e233037 How to Cite?
AbstractWe 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.
Persistent Identifierhttp://hdl.handle.net/10722/284846
ISSN
2015 SCImago Journal Rankings: 0.137
PubMed Central ID

 

DC FieldValueLanguage
dc.contributor.authorLau, CL-
dc.contributor.authorChee, WY-
dc.contributor.authorChung, BHY-
dc.contributor.authorWong, MSR-
dc.date.accessioned2020-08-07T09:03:24Z-
dc.date.available2020-08-07T09:03:24Z-
dc.date.issued2020-
dc.identifier.citationBMJ Case Reports, 2020, v. 13, p. article no. e233037-
dc.identifier.issn1757-790X-
dc.identifier.urihttp://hdl.handle.net/10722/284846-
dc.description.abstractWe 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.-
dc.languageeng-
dc.publisherBMJ Group. The Journal's web site is located at http://casereports.bmj.com-
dc.relation.ispartofBMJ Case Reports-
dc.rightsBMJ Case Reports. Copyright © BMJ Group.-
dc.rightsThis article has been accepted for publication in [Journal, Year] following peer review, and the Version of Record can be accessed online at [insert full DOI eg. http://dx.doi.org/10.1136/xxxxx]. [© Authors (or their employer(s)) OR © BMJ Publishing Group Ltd ( for assignments of BMJ Case Reports)] <year>-
dc.titleCHARGE syndrome patient with novel CHD7 mutation presenting with severe laryngomalacia and feeding difficulty-
dc.typeArticle-
dc.identifier.emailLau, CL: lcl614@hku.hk-
dc.identifier.emailChee, WY: yychee13@hku.hk-
dc.identifier.emailChung, BHY: bhychung@hku.hk-
dc.identifier.emailWong, MSR: wongmsr@hku.hk-
dc.identifier.authorityChung, BHY=rp00473-
dc.description.naturelink_to_OA_fulltext-
dc.identifier.doi10.1136/bcr-2019-233037-
dc.identifier.pmid32699053-
dc.identifier.pmcidPMC7380955-
dc.identifier.scopuseid_2-s2.0-85088454154-
dc.identifier.hkuros311768-
dc.identifier.volume13-
dc.identifier.spagearticle no. e233037-
dc.identifier.epagearticle no. e233037-
dc.publisher.placeUnited Kingdom-

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