Prenatal diagnosis of caudal regression with heterotaxy syndrome: “A mermaid with a broken heart”.
Echocardiography. 2019 Jan 27;:
Authors: Zhang Y, Sun C, Jiang C, Zhao W, Wang W, Cao Q, Ge S
Caudal regression syndrome (CRS) is a rare congenital malformation with varying degrees of early gestational developmental failure. It is characterized by agenesis of the sacrum and lumbar spine, with lower limb neurological deficit and accompanying deformities of the pelvis, lower extremities, genitourinary, and gastrointestinal systems. We report a case of CRS associated with rare complex congenital heart defect, that is, heterotaxy syndrome, diagnosed prenatally.
PMID: 30685882 [PubMed – as supplied by publisher]