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1/25/2021 10:52:18 AM | Browse: 268 | Download: 367
Publication Name World Journal of Clinical Cases
Manuscript ID 59438
Country China
Received
2020-09-26 06:14
Peer-Review Started
2020-09-18 10:08
To Make the First Decision
Return for Revision
2020-11-23 07:29
Revised
2020-12-06 03:22
Second Decision
2020-12-15 09:38
Accepted by Journal Editor-in-Chief
Accepted by Company Editor-in-Chief
2020-12-16 21:40
Articles in Press
2020-12-16 21:40
Publication Fee Transferred
Edit the Manuscript by Language Editor
2020-12-29 08:50
Typeset the Manuscript
2021-01-21 02:05
Publish the Manuscript Online
2021-01-25 10:52
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) 2020. 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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Publisher Baishideng Publishing Group Inc, 7041 Koll Center Parkway, Suite 160, Pleasanton, CA 94566, USA
Website http://www.wjgnet.com
Category Genetics & Heredity
Manuscript Type Case Report
Article Title Apert syndrome diagnosed by prenatal ultrasound combined with magnetic resonance image and whole exome sequencing: A case report
Manuscript Source Unsolicited Manuscript
All Author List Chen Lei and Fei-Xiang Huang
ORCID
Author(s) ORCID Number
Chen Lei http://orcid.org/0000-0001-8772-2951
Fei-Xiang Huang http://orcid.org/0000-0002-2299-1795
Funding Agency and Grant Number
Corresponding Author Fei-Xiang Huang, PhD, Associate Chief Physician, Department of Traditional Chinese Medicine, Hangzhou Women’s Hospital, No. 369 Kunpeng Road, Shangcheng District, Hangzhou 310008, Zhejiang Province, China. fxhuang2009@163.com
Key Words Apert syndrome; Prenatal ultrasound; Magnetic resonance image; Whole exome sequencing; FGFR2; Case report
Core Tip Apert syndrome (AS) during pregnancy is rare. We present a case of AS diagnosed by prenatal ultrasound combined with magnetic resonance imaging and whole exome sequencing in late pregnancy. Our case also shows that S252W mutation of AS is related to syndactyly, craniofacial dysplasia and syndactyly, and suggests that young paternal age is also related to AS. We reviewed the three-dimensional fetal ultrasound at 23, 5/7 wk of gestation and found some suspicious images such as craniosynostosis and raised forehead. This shows that improved awareness of AS and prenatal imaging are important.
Publish Date 2021-01-25 10:52
Citation Lei C, Huang FX. Apert syndrome diagnosed by prenatal ultrasound combined with magnetic resonance image and whole exome sequencing: A case report. World J Clin Cases 2021; 9(4): 912-918
URL https://www.wjgnet.com/2307-8960/full/v9/i4/912.htm
DOI https://dx.doi.org/10.12998/wjcc.v9.i4.912
Full Article (PDF) WJCC-9-912.pdf
Full Article (Word) WJCC-9-912.docx
CARE Checklist–2016 59438-CARE-Checklist–2016-revision.jpg
Manuscript File 59438_Auto_Edited-Webster J.docx
Answering Reviewers 59438-Answering reviewers.pdf
Audio Core Tip 59438-Audio core tip.m4a
Conflict-of-Interest Disclosure Form 59438-Conflict-of-interest statement.pdf
Copyright License Agreement 59438-Copyright license agreement.pdf
Signed Informed Consent Form(s) or Document(s) 59438-Informed consent statement.pdf
Non-Native Speakers of English Editing Certificate 59438-Language certificate.pdf
Peer-review Report 59438-Peer-review(s).pdf
Scientific Misconduct Check 59438-Scientific misconduct check.pdf
Scientific Editor Work List 59438-Scientific editor work list.pdf