Case Report
Copyright ©The Author(s) 2023. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Clin Cases. Mar 26, 2023; 11(9): 2036-2042
Published online Mar 26, 2023. doi: 10.12998/wjcc.v11.i9.2036
Acromicric dysplasia caused by a mutation of fibrillin 1 in a family: A case report
Ren Shen, Jian-Hua Feng, Shan-Pu Yang
Ren Shen, Shan-Pu Yang, Department of Pediatrics, The People's Hospital of Yuhuan, Taizhou 317600, Zhejiang Province, China
Jian-Hua Feng, Department of Hematology, The First Affiliated Hospital of Wenzhou Medical University, Wenzhou 325000, Zhejiang Province, China
Author contributions: Yang SP and Shen R were responsible for the diagnosis and treatment of the patient; Shen R prepared the manuscript; Yang SP and Feng JH participated in revision of the manuscript; All authors have read and approved the final manuscript.
Informed consent statement: Informed written consent was obtained from the patients for publication of this report and any accompanying images.
Conflict-of-interest statement: All the authors report no relevant conflicts of interest for this article.
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:
Corresponding author: Shan-Pu Yang, MBChB, Chief Physician, Department of Pediatrics, The People's Hospital of Yuhuan, No. 18 Changle Road, Yucheng Street, Taizhou 317600, Zhejiang Province, China.
Received: November 29, 2022
Peer-review started: November 29, 2022
First decision: February 14, 2023
Revised: February 20, 2023
Accepted: March 3, 2023
Article in press: March 3, 2023
Published online: March 26, 2023
Processing time: 107 Days and 23.5 Hours
Core Tip

Core Tip: Acromicric dysplasia (AD) is a rare skeletal dysplasia, and its incidence is < 1 in 1000000. Here, we report a clinical phenotype of AD associated with mutations in the fibrillin 1 (OMIM 102370) gene c.5183C>T (p.Ala1728Val) in three people from a Chinese family. A 4-year-old boy was treated with recombinant human growth hormone (rhGH) for > 5 years. The efficacy of rhGH was clear in the first year of treatment; his height increased from -3.64 standard deviation score (SDS) to -2.88 SDS, while the efficacy weakened from the second year. However, long-term follow-up is required to clarify the efficacy of rhGH.