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

doi:10.12998/wjcc.v9.i23.6832

Prenatal diagnosis of triphalangeal thumb-polysyndactyly syndrome by ultrasonography combined with genetic testing: A case report

World J Clin Cases. 2021 Aug 16;9(23):6832-6838. doi: 10.12998/wjcc.v9.i23.6832.

Authors

Shi-Jie Zhang¹, Hai-Bin Lin², Qiu-Xia Jiang³, Shao-Zheng He¹, Guo-Rong Lyu¹

Affiliations

¹ Department of Ultrasound, The Second Affiliated Hospital of Fujian Medical University, Quanzhou 362000, Fujian Province, China.
² Department of Ultrasound, Jinjiang Municipal Hospital, Quanzhou 362000, Fujian Province, China.
³ Department of Ultrasound, Quanzhou Women's and Children's Hospital, Quanzhou 362000, Fujian Province, China.

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^th wk of pregnancy, featuring hands with six metacarpals, an extra digit at the 5^th finger side, and an abnormally widened thumb. Whole-exome sequencing was subsequently conducted. The results showed that exons 1-17 of the LMBR1 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.

Keywords: Case report; Congenital limb deformities; Polydactyly; Prenatal diagnosis; Syndactyly; Ultrasound.

Publication types

Case Reports