Tao Y, Wei Q, Chen X, Nong GM. Geleophysic dysplasia caused by a mutation in FBN1: A case report. World J Clin Cases 2021; 9(24): 7175-7180 [PMID: 34540975 DOI: 10.12998/wjcc.v9.i24.7175]
Corresponding Author of This Article
Guang-Min Nong, MD, Professor, Department of Pediatrics, The First Affiliated Hospital of Guangxi Medical University, No. 6 Shuangyong Road, Nanning 530021, Guangxi Zhuang Autonomous Region, China. ngm8525@163.com
Research Domain of This Article
Pediatrics
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. Aug 26, 2021; 9(24): 7175-7180 Published online Aug 26, 2021. doi: 10.12998/wjcc.v9.i24.7175
Geleophysic dysplasia caused by a mutation in FBN1: A case report
Ying Tao, Qing Wei, Xun Chen, Guang-Min Nong
Ying Tao, Qing Wei, Xun Chen, Guang-Min Nong, Department of Pediatrics, The First Affiliated Hospital of Guangxi Medical University, Nanning 530021, Guangxi Zhuang Autonomous Region, China
Author contributions: Tao Y, Wei Q, and Nong GM conceptualized and designed the study; Tao Y and Wei Q drafted the initial manuscript; Chen X collected and analyzed the data; Tao Y, Wei Q, and Chen X reviewed and revised the manuscript; Nong GM coordinated and supervised the data collection, and critically reviewed the manuscript; All authors approved the final manuscript as submitted and agree to be accountable for all aspects of the work.
Informed consent statement: Informed written consent was obtained from the patients for publication of this report and any accompanying images.
Conflict-of-interest statement: The authors have no potential conflicts of interest to disclose.
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: Guang-Min Nong, MD, Professor, Department of Pediatrics, The First Affiliated Hospital of Guangxi Medical University, No. 6 Shuangyong Road, Nanning 530021, Guangxi Zhuang Autonomous Region, China. ngm8525@163.com
Received: February 23, 2021 Peer-review started: February 23, 2021 First decision: May 11, 2021 Revised: May 19, 2021 Accepted: July 7, 2021 Article in press: July 7, 2021 Published online: August 26, 2021
Abstract
BACKGROUND
Geleophysic dysplasia (GD) presents the characterized clinical manifestations of acromelic dysplasia, including extremely short stature, short limbs, small hands and feet, stubby fingers and toes, joint stiffness and others. It is clinically distinct from the other acromelic dysplasia in terms of symptoms such as cardiac valvular abnormalities, progressive hepatomegaly and tracheal stenosis.
CASE SUMMARY
We report on a Chinese 9-year-old girl with GD with the c.5243G>T (p.C1748F) mutation in FBN1 (fibrillin 1, OMIM 134797). She was born in Guangxi Zhuang Autonomous Region of China. The patient presented with typical clinical features of GD and recurrent respiratory tract infections over 6 years. Laboratory studies and chest computed tomography (CT) scan indicated bronchopneumonia. Her echocardiography revealed mild mitral valve thickening with regurgitation. Laryngopharyngeal CT and electronic bronchoscopy revealed severe glottic stenosis. Echocardiography examination displayed mild mitral valve thickening and regurgitation. Ophthalmic examination did not reveal myopia or lens dislocation. Treated with ceftriaxone sodium and methylprednisolone sodium succinate for injection as well as methylprednisolone orally, patient’s symptoms had improved.
CONCLUSION
GD is a rare genetic condition that can cause life-threatening cardiovascular and respiratory problems. This study also found that the identified genotype of GD could be related to different clinical phenotypes.
Core Tip: We aim to report a 9-year-old girl with geleophysic dysplasia (GD) with mutation c.5243G>T (p.C1748F) in FBN1. Other than the patient we reported, a total of 9 acromelic dysplasia cases due to mutations in c.5242T, c.5243G or c.5244T of FBN1 have been reported, which all are predicted to result in the substitution of cysteine at codon 1748. This study also found that the identified genotype of GD could be related to different clinical phenotypes.
