Case Report
Copyright ©The Author(s) 2021. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Clin Cases. Aug 16, 2021; 9(23): 6832-6838
Published online Aug 16, 2021. doi: 10.12998/wjcc.v9.i23.6832
Prenatal diagnosis of triphalangeal thumb-polysyndactyly syndrome by ultrasonography combined with genetic testing: A case report
Shi-Jie Zhang, Hai-Bin Lin, Qiu-Xia Jiang, Shao-Zheng He, Guo-Rong Lyu
Shi-Jie Zhang, Shao-Zheng He, Guo-Rong Lyu, Department of Ultrasound, The Second Affiliated Hospital of Fujian Medical University, Quanzhou 362000, Fujian Province, China
Hai-Bin Lin, Guo-Rong Lyu, Department of Ultrasound, Jinjiang Municipal Hospital, Quanzhou 362000, Fujian Province, China
Qiu-Xia Jiang, Guo-Rong Lyu, Department of Ultrasound, Quanzhou Women’s and Children’s Hospital, Quanzhou 362000, Fujian Province, China
Qiu-Xia Jiang, Guo-Rong Lyu, Collaborative Innovation Center for Maternal and Infant Health Service, Application Technology of Education Ministry, Quanzhou Medical College, Quanzhou 362000, Fujian Province, China
Author contributions: Zhang SJ was involved in drafting the manuscript, acquiring the data, modifying the images, and revising the manuscript; Lin HB contributed to the physical examinations and clinical X-ray examinations, data acquisition, and the revision of the manuscript; Jiang QX and He SZ revised the manuscript critically for important intellectual content; Lyu GR made substantial contributions to the conception and design, revised the manuscript critically for important intellectual content, and gave final approval of the version to be published; all authors have approved the manuscript.
Supported by Fund of the Research Project of Collaborative Innovation Center for Maternal and Infant Health Service Application Technology, No. XJM1802.
Informed consent statement: All study participants, or their legal guardian, provided informed written consent prior to study enrollment.
Conflict-of-interest statement: There is no conflict of interest to report.
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: Guo-Rong Lyu, MS, Chief Doctor, Professor, Department of Ultrasound, The Second Affiliated Hospital of Fujian Medical University, No. 34 Zhongshan North Road, Quanzhou 362000, Fujian Province, China. lgr_feus@sina.com
Received: April 24, 2021
Peer-review started: April 24, 2021
First decision: May 24, 2021
Revised: June 4, 2021
Accepted: June 16, 2021
Article in press: June 16, 2021
Published online: August 16, 2021
Processing time: 103 Days and 13.4 Hours
Core Tip

Core Tip: Triphalangeal thumb-polysyndactyly syndrome (TPT-PS) is a rare type of congenital limb deformity that has autosomal dominant inheritance. A case of TPT-PS diagnosed by ultrasound in pregnancy is presented. Features of antenatal ultrasound include hands with six metacarpals, an extra digit at the 5th finger side, an abnormally widened thumb or thumb shaped like a trident (bifida), and the absence of interphalangeal space between fingers. This case also shows that heterozygous duplication encompassing exons 1-17 of the LMBR1 gene is related to TPT-PS.