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Articles Published Processes
3/5/2021 12:08:54 PM | Browse: 392 | Download: 817
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Received |
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2020-08-12 18:18 |
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Peer-Review Started |
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2020-08-12 18:19 |
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To Make the First Decision |
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Return for Revision |
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2020-12-08 07:38 |
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Revised |
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2020-12-31 00:50 |
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Second Decision |
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2021-01-21 06:10 |
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Accepted by Journal Editor-in-Chief |
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Accepted by Executive Editor-in-Chief |
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2021-01-23 02:30 |
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Articles in Press |
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2021-01-23 02:30 |
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Publication Fee Transferred |
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Edit the Manuscript by Language Editor |
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2021-02-02 02:56 |
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Typeset the Manuscript |
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2021-03-04 03:32 |
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Publish the Manuscript Online |
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2021-03-05 12:08 |
| ISSN |
2307-8960 (online) |
| Open Access |
This article is an open-access article that was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution NonCommercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: http://creativecommons.org/Licenses/by-nc/4.0/ |
| Copyright |
© The Author(s) 2021. Published by Baishideng Publishing Group Inc. All rights reserved. |
| Article Reprints |
For details, please visit: http://www.wjgnet.com/bpg/gerinfo/247
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| Permissions |
For details, please visit: http://www.wjgnet.com/bpg/gerinfo/207
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| Publisher |
Baishideng Publishing Group Inc, 7041 Koll Center Parkway, Suite 160, Pleasanton, CA 94566, USA |
| Website |
http://www.wjgnet.com |
| Category |
Otorhinolaryngology |
| Manuscript Type |
Case Report |
| Article Title |
Three-year clinical investigation of a Chinese child with craniometaphyseal dysplasia caused by a mutated ANKH gene: A case report
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| Manuscript Source |
Unsolicited Manuscript |
| All Author List |
Jia-Li Wu, Xiao-Li Li, Shu-Mei Chen, Xiao-Ping Lan, Jin-Jin Chen, Xiao-Yan Li and Wei Wang |
| ORCID |
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| Funding Agency and Grant Number |
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| Corresponding Author |
Wei Wang, MD, N/A, PhD, Professor, /, Shanghai AhCare Consulting, No. 500 Furonghua Road, Pudong New District, Shanghai 20120, China. angei200598@126.com |
| Key Words |
ANKH gene mutation; Clinical investigation; Craniometaphyseal dysplasia; Case report; Child |
| Core Tip |
Craniometaphyseal dysplasia is a rare genetic disorder. It has been found to be caused by mutations in the ANKH gene with an inheritance of autosomal dominant pattern. If untreated, hyperostosis and sclerosis of the skull may lead to cranial nerve compressions resulting in deafness, blindness and facial palsy. Surgical interventions would be usually needed in severe cases such as these. We herein reported the first affected Chinese case with heterozygous mutation of p.Phe377 deletion (c.1129_1131del) on the ANKH gene. We investigated clinical changes in this patient undergoing nutritional intervention between 3 and 33 mo. Biochemical alterations were significantly changed after dietary intervention. Phenotypic manifestations were markedly alleviated. A low calcium diet may help slow the clinical course in children and improve the quality of life before the necessary surgery. Further studies at a larger scale would be needed to establish the appropriate timing of nutritional and surgical interventions. |
| Publish Date |
2021-03-05 12:08 |
| Citation |
Wu JL, Li XL, Chen SM, Lan XP, Chen JJ, Li XY, Wang W. Three-year clinical investigation of a Chinese child with craniometaphyseal dysplasia caused by a mutated ANKH gene: A case report. World J Clin Cases 2021; 9(8): 1853-1862 |
| URL |
https://www.wjgnet.com/2307-8960/full/v9/i8/1853.htm |
| DOI |
https://dx.doi.org/10.12998/wjcc.v9.i8.1853 |
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