Zhang Shi-Jie, Lin Hai-Bin, Jiang Qiu-Xia, He Shao-Zheng, Lyu Guo-Rong
Department of Ultrasound, The Second Affiliated Hospital of Fujian Medical University, Quanzhou 362000, Fujian Province, China.
Department of Ultrasound, Jinjiang Municipal Hospital, Quanzhou 362000, Fujian Province, China.
World J Clin Cases. 2021 Aug 16;9(23):6832-6838. doi: 10.12998/wjcc.v9.i23.6832.
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 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.
We suggest prenatal ultrasound examination combined with genetic testing to diagnose TPT-PS accurately and to help clinicians and patients make decisions.
三指节拇指-多指畸形综合征（TPT-PS）是一种罕见的先天性肢体畸形类型，大多数研究集中在遗传学方面。关于孕期TPT-PS超声特征的病例报告很少。
本文报告一名30岁（孕3产1）怀有TPT-PS胎儿的孕妇。妊娠19周时超声检查显示可能为TPT-PS，其特征为手部有6块掌骨，第5指侧有一个额外手指，且拇指异常增宽。随后进行了全外显子组测序。结果显示该基因的外显子1-17存在杂合性重复，长度约为253 kb。
我们建议采用产前超声检查结合基因检测来准确诊断TPT-PS，并帮助临床医生和患者做出决策。
