Case Report
Copyright ©The Author(s) 2023. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Orthop. Nov 18, 2023; 14(11): 827-835
Published online Nov 18, 2023. doi: 10.5312/wjo.v14.i11.827
Surgical treatment of atlantoaxial dysplasia and scoliosis in spondyloepiphyseal dysplasia congenita: A case report
Yang Jiao, Jun-Duo Zhao, Xu-An Huang, Hao-Yu Cai, Jian-Xiong Shen
Yang Jiao, Jun-Duo Zhao, Xu-An Huang, Hao-Yu Cai, Jian-Xiong Shen, Department of Orthopaedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Sciences, Beijing 100730, China
Author contributions: Cai HY collected data from medical records; Zhao JD reviewed the radiographs; Jiao Y wrote the manuscript; Huang XA provided intellectual support; Shen JX finalised the manuscript and was responsible for this; All authors reviewed the manuscript; Final approval of the manuscript has been obtained from all authors.
Supported by National Natural Science Foundation of China, No. 81974354and No. 82230083.
Informed consent statement: Informed written consent was obtained from the patient for publication of this report and any accompanying images.
Conflict-of-interest statement: All the authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential 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: Jian-Xiong Shen, MD, Director, Professor, Department of Orthopaedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Sciences, No. 1 Shuaifuyuan, Beijing 100730, China. sjxpumch@163.com
Received: August 14, 2023
Peer-review started: August 14, 2023
First decision: September 28, 2023
Revised: October 9, 2023
Accepted: October 23, 2023
Article in press: October 23, 2023
Published online: November 18, 2023
Processing time: 93 Days and 16.7 Hours
Core Tip

Core Tip: This study describes the case of a 16-year-old male patient diagnosed with spondyloepiphyseal dysplasia congenita (SEDC) and treated with surgeries for multiple spinal deformities. SEDC is a rare genetic disorder, which mainly affects skeletal development, with an incidence of approximately 3/1000000. Due to the low incidence, there are very few reports on surgical treatment of skeletal deformities in patients with SEDC. We believe that our study makes a significant contribution to the literature because this is the first case report of a patient with SEDC who successfully underwent surgeries for atlantoaxial dysplasia and scoliosis.