Publication Name	World Journal of Clinical Cases
Manuscript ID	81790
Country	China

Received	2022-11-29 11:08
Peer-Review Started	2022-11-29 11:09
To Make the First Decision
Return for Revision	2023-02-14 03:50
Revised	2023-02-20 15:04
Second Decision	2023-03-03 03:21
Accepted by Journal Editor-in-Chief
Accepted by Executive Editor-in-Chief	2023-03-03 08:29
Articles in Press	2023-03-03 08:29
Publication Fee Transferred
Edit the Manuscript by Language Editor
Typeset the Manuscript	2023-03-09 07:03
Publish the Manuscript Online	2023-03-17 10:37

ISSN	2307-8960 (online)
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Category	Pediatrics
Manuscript Type	Case Report
Article Title	Acromicric dysplasia caused by a mutation of fibrillin 1 in a family: A case report
Manuscript Source	Unsolicited Manuscript
All Author List	Ren Shen, Jian-Hua Feng and Shan-Pu Yang
ORCID	Author(s) ORCID Number Ren Shen http://orcid.org/0000-0001-7369-6692 Jian-Hua Feng http://orcid.org/0000-0003-1570-7626 Shan-Pu Yang http://orcid.org/0000-0003-3135-5165
Funding Agency and Grant Number
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. ysp6005@qq.com
Key Words	Fibrillin 1; Gene; Acromicric dysplasia; Short stature; Recombinant human growth hormone; Case report
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.
Publish Date	2023-03-17 10:37
Citation	Shen R, Feng JH, Yang SP. Acromicric dysplasia caused by a mutation of fibrillin 1 in a family: A case report. World J Clin Cases 2023; 11(9): 2036-2042
URL	https://www.wjgnet.com/2307-8960/full/v11/i9/2036.htm
DOI	https://dx.doi.org/10.12998/wjcc.v11.i9.2036

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