Published online Aug 16, 2021. doi: 10.12998/wjcc.v9.i23.6832
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
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.
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 19th wk of pregnancy, featuring hands with six metacarpals, an extra digit at the 5th 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.
We suggest prenatal ultrasound examination combined with genetic testing to diagnose TPT-PS accurately and to help clinicians and patients make decisions.
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 interpha