Li XJ, Su JM, Ye XW. Crouzon syndrome in a fraternal twin: A case report and review of the literature. World J Clin Cases 2022; 10(16): 5317-5323 [PMID: 35812652 DOI: 10.12998/wjcc.v10.i16.5317]
Corresponding Author of This Article
Ji-mei Su, MD, Chief Doctor, Department of Stomatology, The Children’s Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, No. 3333 Binsheng Road, Hangzhou 310052, Zhejiang Province, China. 6198003@zju.edu.cn
Research Domain of This Article
Dentistry, Oral Surgery & Medicine
Article-Type of This Article
Case Report
Open-Access Policy of This Article
This article is an open-access article which was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution Non Commercial (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/
World J Clin Cases. Jun 6, 2022; 10(16): 5317-5323 Published online Jun 6, 2022. doi: 10.12998/wjcc.v10.i16.5317
Crouzon syndrome in a fraternal twin: A case report and review of the literature
Xiao-Jing Li, Ji-Mei Su, Xiao-Wei Ye
Xiao-Jing Li, Ji-Mei Su, Xiao-Wei Ye, Department of Stomatology, The Children’s Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, Hangzhou 310052, Zhejiang Province, China
Author contributions: Li XJ and Su JM performed the initial review and data collection, reviewed the literature and contributed to the manuscript drafting and revision; Ye XW analyzed and interpreted the imaging findings; all authors issued final approval for the version to be submitted.
Informed consent statement: Informed written consent was obtained from the patient for the publication of this report and any accompanying images.
Conflict-of-interest statement: The authors declare that they have no 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: https://creativecommons.org/Licenses/by-nc/4.0/
Corresponding author: Ji-mei Su, MD, Chief Doctor, Department of Stomatology, The Children’s Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, No. 3333 Binsheng Road, Hangzhou 310052, Zhejiang Province, China. 6198003@zju.edu.cn
Received: December 13, 2021 Peer-review started: December 13, 2021 First decision: January 12, 2022 Revised: January 21, 2022 Accepted: April 2, 2022 Article in press: April 2, 2022 Published online: June 6, 2022 Processing time: 171 Days and 2.7 Hours
Abstract
BACKGROUND
Crouzon syndrome (CS; OMIM 123500) is an autosomal dominant inherited craniofacial disorder caused by mutations in the fibroblast growth factor receptor 2 (FGFR2) gene. CS is characterized by craniofacial dysostosis, exophthalmos, and facial anomalies with hypoplastic maxilla and relative mandibular prognathism.
CASE SUMMARY
Our report involves a 6-year-old fraternal twin boy with many caries in the oral cavity who presented with characteristic features of CS based on clinical and radiographic examinations along with Sanger sequencing. The fraternal girl did not show any abnormalities indicating CS. Carious teeth and poor oral hygiene were managed promptly through administering appropriate behavior guidance, orthodontic treatment was planned, and preventive procedures were described.
CONCLUSION
CS could occur in a fraternal twin caused by a de novo mutation of the FGFR2 gene. Oral hygiene instruction, preventive programs on oral hygiene, orthodontic treatment, and maxillary osteotomy were required for treatment.
Core Tip: Crouzon syndrome (CS) is an autosomal dominant inherited craniofacial disorder caused by mutations in fibroblast growth factor receptor 2, but approximately 50% of cases result from de novo mutations. This syndrome has been rarely seen and evaluated in fraternal twins, only one of whom has CS. We presented a 6-year-old fraternal twin boy diagnosed with CS who had many caries and enamel hypomineralization in the oral cavity. The boy’s parents and his fraternal twin sister did not show any abnormalities indicating CS, so we hypothesize that the fraternal twin boy’s gene mutation arose from a de novo mutation.
