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

作　　者：Shi-Jie Zhang Hai-Bin Lin Qiu-Xia Jiang Shao-Zheng He Guo-Rong Lyu 

机构地区：[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 [4]Collaborative Innovation Center for Maternal and Infant Health Service,Application Technology of Education Ministry,Quanzhou Medical College,Quanzhou 362000,Fujian Province,China

出　　处：《World Journal of Clinical Cases》2021年第23期6832-6838,共7页世界临床病例杂志

基　　金：Supported by Fund of the Research Project of Collaborative Innovation Center for Maternal and Infant Health Service Application Technology,No.XJM1802.

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

关 键 词：Congenital limb deformities Ultrasound Prenatal diagnosis POLYDACTYLY SYNDACTYLY Case report 

分 类 号：R445.1[医药卫生—影像医学与核医学] R714.5[医药卫生—诊断学]