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©The Author(s) 2022. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Clin Cases. Jan 7, 2022; 10(1): 338-344
Published online Jan 7, 2022. doi: 10.12998/wjcc.v10.i1.338
Published online Jan 7, 2022. doi: 10.12998/wjcc.v10.i1.338
Clinical manifestations and prenatal diagnosis of Ullrich congenital muscular dystrophy: A case report
Jun Hu, Yan-Hui Chen, Xin Fang, Department of Pediatrics, Fujian Medical University Union Hospital, Fuzhou 350001, Fujian Province, China
Yu Zhou, Department of Obstetrics and Gynecology, Fujian Medical University Union Hospital, Fuzhou 350001, Fujian Province, China
Feng Chen, Department of Pediatric Surgery, Fujian Medical University Union Hospital, Fuzhou 350001, Fujian Province, China
Author contributions: Hu J, Chen YH, Fang X, Zhou Y, and Chen F treated the patients; Hu J designed the study, interpreted the data, and wrote the manuscript; Chen YH revised the manuscript for intellectual content; and all authors were involved in the analysis and interpretation of the findings, improved the manuscript, contributed for important intellectual content, and approved the final manuscript.
Supported by the Research Project of Joint Funds for the Innovation of Science and Technology , Fujian Province, No. 2018Y9029.
Informed consent statement: All study participants, or their legal guardians, provided informed written consent prior to study enrollment.
Conflict-of-interest statement: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.
CARE Checklist (2016) statement: The authors have read the CARE Checklist (2016), and the manuscript was prepared and revised according to the CARE Checklist (2016).
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/
Corresponding author: Jun Hu, Doctor, PhD, Assistant Professor, Chief Physician, Department of Pediatrics, Fujian Medical University Union Hospital, No. 29 Xinquan Road, Fuzhou 350001, Fujian Province, China. hujun2252@hotmail.com
Received: July 12, 2021
Peer-review started: July 12, 2021
First decision: July 26, 2021
Revised: July 28, 2021
Accepted: November 28, 2021
Article in press: November 28, 2021
Published online: January 7, 2022
Processing time: 170 Days and 18.3 Hours
Peer-review started: July 12, 2021
First decision: July 26, 2021
Revised: July 28, 2021
Accepted: November 28, 2021
Article in press: November 28, 2021
Published online: January 7, 2022
Processing time: 170 Days and 18.3 Hours
Core Tip
Core tip: We report the clinical manifestations and prenatal diagnosis of compound heterozygous mutations of the COL6A2 gene in a Chinese family with Ullrich congenital muscular dystrophy (UCMD). A 3-year-old boy and his 4-year-old brother had typical UCMD manifestations of the early-severe subtype. They carried two mutations of the COL6A2 gene (c.1353_c.1354 ins C, p.Arg453ProfsTer42/c.2105 G>A, p.Trp702Ter). The absence of collagen VI staining in the younger brother’s muscle was identified accurately. A 20-wk-old fetus in their mother’s womb underwent prenatal diagnosis and carried the same two mutations. After a painful psychological struggle, their parents decided to terminate the pregnancy.