Peng Wentong, Li Lijiao, Yang Rongbi, Xie Hong, Lan Yi
Department of Ultrasound Medicine, Ziyang Hospital of Traditional Chinese Medicine, Ziyang, Sichuan Province, China.
Medicine (Baltimore). 2025 Aug 8;104(32):e43674. doi: 10.1097/MD.0000000000043674.
Pentalogy of Cantrell is a rare congenital condition characterized by a combination of 5 severe midline defects, including cardiac malformations, pericardial defects, sternal malformations, diaphragmatic defects, and abdominal wall defects.
A 31-year-old primigravida at 12 weeks of gestation visited our hospital in December 2022 for cough and expectoration.
Two-dimensional ultrasound revealed thoracoabdominal wall defects, an extrathoracic heart, liver displacement, and intestinal tubes protruding from the umbilicus, indicating key features of pentalogy of Cantrell.
After a multidisciplinary consultation on the malformation's severity and treatment options, the family chose to terminate the pregnancy.
A postmortem confirmed the ultrasound findings.
This case highlights the critical role of routine prenatal ultrasound examinations in detecting rare congenital malformations.
坎特雷尔五联症是一种罕见的先天性疾病,其特征是存在5种严重的中线缺陷,包括心脏畸形、心包缺损、胸骨畸形、膈肌缺损和腹壁缺损。
一名31岁初产妇,孕12周,于2022年12月因咳嗽咳痰前来我院就诊。
二维超声显示胸腹壁缺损、体外心脏、肝脏移位以及肠管从脐部突出,提示坎特雷尔五联症的关键特征。
在对畸形严重程度和治疗方案进行多学科会诊后,家属选择终止妊娠。
尸检证实了超声检查结果。
该病例凸显了常规产前超声检查在检测罕见先天性畸形中的关键作用。