Case Report
Copyright ©The Author(s) 2022. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Clin Cases. Mar 26, 2022; 10(9): 2811-2817
Published online Mar 26, 2022. doi: 10.12998/wjcc.v10.i9.2811
Short stature associated with a novel mutation in the aggrecan gene: A case report and literature review
Li-Ping Yin, Hong-Xue Zheng, Hong Zhu
Li-Ping Yin, Hong-Xue Zheng, Hong Zhu, Department of Paediatrics, The First People’s Hospital of Changzhou, The Third Affiliated Hospital of Soochow University, Changzhou 213000, Jiangsu Province, China
Author contributions: Yin LP and Zheng HX collected the medical records of the patient, reviewed the literature, and drafted the manuscript; Zhu H revised the manuscript; all authors agreed to submit the final version.
Informed consent statement: The patient signed the informed consent and permitted publication of his information and any accompanying images.
Conflict-of-interest statement: The authors declare that there was no conflict of interest to report.
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: Hong Zhu, PhD, Professor, Department of Paediatrics, The First People’s Hospital of Changzhou, The Third Affiliated Hospital of Soochow University, No. 185 Juqian Street, Changzhou 213000, Jiangsu Province, China. zhuhongcz@126.com
Received: July 27, 2021
Peer-review started: July 27, 2021
First decision: October 22, 2021
Revised: November 2, 2021
Accepted: February 19, 2022
Article in press: February 19, 2022
Published online: March 26, 2022
Processing time: 238 Days and 0.5 Hours
Core Tip

Core Tip: Because of the diversity of clinical manifestations, phenotype overlap, and high genetic heterogeneity of short stature, the etiology of dwarfism cannot be determined by merely inquiring about the medical history, clinical performances, and routine laboratory examination. Gene detection can provide clear clinical diagnostic evidence, decrease the medical error and missed diagnosis of the disorder, instruct genetic counseling, and supply a trustworthy principle for fetal diagnosis. This case expanded the spectrum of aggrecan gene mutations.