2006-06-06-14 Jarcho-Levin syndrome with caudal regression © Cuillier www.thefetus.net/
Jarcho-Levin syndrome with caudal regression
Cuillier F, MD*, Charpentier AS**, M’Lamali H***, Colbert R, MD***
* Department of Gynecology, Félix Guyon’s Hospital ** Department of Gynecology, Gabrile Martin’s Hospital *** Sonographer, Saint-Paul, Réunion Island, France
Definition: Caudal regression syndrome is a rare congenital defect characterized by the absence of the sacrum and a defect of lumbar spine. It is considered to be the most characteristic of all congenital anomalies associated with maternal diabetes mellitus.
Case report: This is a 22-year-old-woman, G2P1, referred to our unit (Gabriel Martin Hospital) at 24 weeks. During the first trimester, the triple test and nuchal translucency were not measured. Ultrasound examination revealed a single fetus in a pelvic presentation and the following ultrasound findings: