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5/13/2026 8:18:30 AM | Browse: 4 | Download: 13
Publication Name World Journal of Clinical Pediatrics
Manuscript ID 116726
Country Thailand
Received
2025-11-20 06:13
Peer-Review Started
2025-11-20 06:13
First Decision by Editorial Office Director
2025-12-09 09:27
Return for Revision
2025-12-09 09:27
Revised
2025-12-25 11:53
Publication Fee Transferred
2025-12-26 06:28
Second Decision by Editor
2026-01-26 02:47
Second Decision by Editor-in-Chief
Final Decision by Editorial Office Director
2026-01-26 08:38
Articles in Press
2026-01-26 08:38
Edit the Manuscript by Language Editor
Typeset the Manuscript
2026-04-24 00:44
Publish the Manuscript Online
2026-05-13 08:18
ISSN 2219-2808 (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) 2026. Published by Baishideng Publishing Group Inc. All rights reserved.
Article Reprints For details, please visit: http://www.wjgnet.com/bpg/gerinfo/247
Permissions For details, please visit: http://www.wjgnet.com/bpg/gerinfo/207
Publisher Baishideng Publishing Group Inc, 7041 Koll Center Parkway, Suite 160, Pleasanton, CA 94566, USA
Website http://www.wjgnet.com
Category Pediatrics
Manuscript Type Case Report
Article Title Duchenne muscular dystrophy coexisting with Down syndrome or Turner syndrome: Two case reports
Manuscript Source Unsolicited Manuscript
All Author List Peerada Pongsakornkullachart, Mongkol Chanvanichtrakool, Dhachdanai Dhachpramuk, Theeraphong Pho-Iam, Nattha Yongwattana, Pimchanok Kulsirichawaroj, Jantima Tanboon and Oranee Sanmaneechai
ORCID
Author(s) ORCID Number
Peerada Pongsakornkullachart http://orcid.org/0000-0002-9161-4491
Mongkol Chanvanichtrakool http://orcid.org/0000-0002-2182-2973
Dhachdanai Dhachpramuk http://orcid.org/0000-0003-1014-1926
Theeraphong Pho-Iam http://orcid.org/0000-0002-7682-7755
Pimchanok Kulsirichawaroj http://orcid.org/0000-0002-9406-8481
Jantima Tanboon http://orcid.org/0000-0002-4110-9198
Oranee Sanmaneechai http://orcid.org/0000-0002-4557-0387
Funding Agency and Grant Number
Corresponding Author Pimchanok Kulsirichawaroj, Division of Neurology, Department of Pediatrics, Faculty of Medicine Siriraj Hospital, Mahidol University, 2 Wanglang Road, Bangkok 10700, Thailand. pimchanok.kul@mahidol.ac.th
Key Words Duchenne muscular dystrophy; Dystrophinopathy; Down syndrome; Turner syndrome; Case report
Core Tip This report describes two unprecedented cases of Duchenne muscular dystrophy coexisting with Down syndrome (DS) and Turner syndrome (TS), highlighting the diagnostic challenges at the intersection of chromosomal and monogenic disease. In patient with DS, hypotonia and developmental delay may mask progressive weakness; in females, a heterozygous variant in the dystrophin gene should prompt evaluation for mosaic TS. Next-generation sequencing, guided by clinical suspicion, enabled recognition of these dual genetic diagnoses. These findings broaden the phenotypic spectrum of Duchenne muscular dystrophy and underscore the need for individualized multidisciplinary care.
Publish Date 2026-05-13 08:18
Citation

Pongsakornkullachart P, Chanvanichtrakool M, Dhachpramuk D, Pho-Iam T, Yongwattana N, Kulsirichawaroj P, Tanboon J, Sanmaneechai O. Duchenne muscular dystrophy coexisting with Down syndrome or Turner syndrome: Two case reports. World J Clin Pediatr 2026; 15(2): 116726

URL https://www.wjgnet.com/2219-2808/full/v15/i2/116726.htm
DOI https://dx.doi.org/10.5409/wjcp.v15.i2.116726
Full Article (PDF) 116726-with-cover.pdf
CARE Checklist–2016 116726-CARE-Checklist-2016.pdf
Manuscript File 116726_Auto_Edited_070844-YJP.docx
Answering Reviewers 116726-answering-reviewers.pdf
Audio Core Tip 116726-audio.mp3
Conflict-of-Interest Disclosure Form 116726-conflict-of-interest-statement.pdf
Copyright License Agreement 116726-copyright-assignment.pdf
Signed Consent for Treatment Form(s) or Document(s) 116726-informed-consent-statement.pdf
Non-Native Speakers of English Editing Certificate 116726-non-native-speakers.pdf
Supplementary Material 116726-supplementary-material.pdf
Peer-review Report 116726-peer-reviews.pdf
Scientific Misconduct Check 116726-scientific-misconduct-check.png
Scientific Editor Work List 116726-scientific-editor-work-list.pdf
CrossCheck Report 116726-crosscheck-report.pdf