Prenatal ultrasound characteristics of fetal Cowden syndrome:one case report
10.3969/j.issn.1672-8467.2025.06.019
- VernacularTitle:胎儿Cowden综合征的产前超声表现1例报告
- Author:
Chen ZHU
1
;
Cai-xia LEI
;
Meng-wei ZHANG
;
Yun-yun REN
Author Information
1. 复旦大学附属妇产科医院超声科 上海 200011
- Publication Type:Journal Article
- Keywords:
Cowden syndrome;
PTEN gene variant;
prenatal ultrasound;
overgrowth;
hepatic hemangiomata
- From:
Fudan University Journal of Medical Sciences
2025;52(6):913-916
- CountryChina
- Language:Chinese
-
Abstract:
Cowden syndrome is a rare autosomal dominant disorder caused by a variant of the PTEN gene,with clinical manifestations mainly of fetal overgrowth and organ tumors.The pregnant woman in this case was 32 years old with gravida 1 and para 0.Prenatal ultrasound in Obstetrics and Gynecology Hospital,Fudan University demonstrated fetal biological parameters abnormally increased(especially in biparietal diameter and circumference of the head)and hepatic tumor.Genetic testing suggested a PTEN gene variant[NM_000314.4:c.193T>G(p.Tyr65Asp)].After termination of pregnancy,autopsy pathology diagnosed fetal organs overgrowth and hepatic hemangioma.This article focuses on the prenatal ultrasound phenotype and genetic features of Cowden syndrome to increase clinicians'awareness of this rare disease.
