Prenatal Diagnosis of Triphalangeal Thumb-polysyndactyly Syndrome by Ultrasonography Combined with Genetic Testing: A Case Report

Overview

Journal World J Clin Cases

Publisher Baishideng Publishing Group

Specialty General Medicine

Date 2021 Aug 27

PMID 34447832

Citations 2

Authors

Shi-Jie Zhang

Hai-Bin Lin

Qiu-Xia Jiang

Shao-Zheng He

Guo-Rong Lyu

Affiliations

Soon will be listed here.

Abstract

Background: Triphalangeal thumb-polysyndactyly syndrome (TPT-PS) is a rare type of congenital limb deformity, and most studies focus on the genetics. Case reports of the sonographic characteristics of TPT-PS during pregnancy are rare.

Case Summary: A 30-year-old woman (G3P1) who had pregnancies with TPT-PS fetuses is presented. The possibility of TPT-PS was shown by ultrasound performed at the 19 wk of pregnancy, featuring hands with six metacarpals, an extra digit at the 5 finger side, and an abnormally widened thumb. Whole-exome sequencing was subsequently conducted. The results showed that exons 1-17 of the gene had a heterozygous duplication, with a length of approximately 253 kb.

Conclusion: We suggest prenatal ultrasound examination combined with genetic testing to diagnose TPT-PS accurately and to help clinicians and patients make decisions.

Citing Articles

Surgical Reconstruction for the Triphalangeal Thumb.

Tiourin E, Sharpe F, Kalina S, Leis A Plast Reconstr Surg Glob Open. 2023; 11(11):e5379.

PMID: 37928630 PMC: 10624463. DOI: 10.1097/GOX.0000000000005379.

Wassel VI Thumb Duplication With Triphalangeal Radial and Ulnar Thumbs: Anatomy and Surgical Reconstruction.

Barr M, Jain N, Jones N Hand (N Y). 2023; 19(8):NP1-NP6.

PMID: 37919973 PMC: 11536766. DOI: 10.1177/15589447231207982.

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