Case Report
Copyright ©The Author(s) 2021. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Clin Cases. Aug 26, 2021; 9(24): 7175-7180
Published online Aug 26, 2021. doi: 10.12998/wjcc.v9.i24.7175
Geleophysic dysplasia caused by a mutation in FBN1: A case report
Ying Tao, Qing Wei, Xun Chen, Guang-Min Nong
Ying Tao, Qing Wei, Xun Chen, Guang-Min Nong, Department of Pediatrics, The First Affiliated Hospital of Guangxi Medical University, Nanning 530021, Guangxi Zhuang Autonomous Region, China
Author contributions: Tao Y, Wei Q, and Nong GM conceptualized and designed the study; Tao Y and Wei Q drafted the initial manuscript; Chen X collected and analyzed the data; Tao Y, Wei Q, and Chen X reviewed and revised the manuscript; Nong GM coordinated and supervised the data collection, and critically reviewed the manuscript; All authors approved the final manuscript as submitted and agree to be accountable for all aspects of the work.
Informed consent statement: Informed written consent was obtained from the patients for publication of this report and any accompanying images.
Conflict-of-interest statement: The authors have no potential conflicts of interest to disclose.
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: Guang-Min Nong, MD, Professor, Department of Pediatrics, The First Affiliated Hospital of Guangxi Medical University, No. 6 Shuangyong Road, Nanning 530021, Guangxi Zhuang Autonomous Region, China. ngm8525@163.com
Received: February 23, 2021
Peer-review started: February 23, 2021
First decision: May 11, 2021
Revised: May 19, 2021
Accepted: July 7, 2021
Article in press: July 7, 2021
Published online: August 26, 2021
Processing time: 181 Days and 12.9 Hours
Core Tip

Core Tip: We aim to report a 9-year-old girl with geleophysic dysplasia (GD) with mutation c.5243G>T (p.C1748F) in FBN1. Other than the patient we reported, a total of 9 acromelic dysplasia cases due to mutations in c.5242T, c.5243G or c.5244T of FBN1 have been reported, which all are predicted to result in the substitution of cysteine at codon 1748. This study also found that the identified genotype of GD could be related to different clinical phenotypes.