Prenatal diagnosis of Caudal Regression Syndrome : a case report
1 Department of Perinatology, SSK Bakirkoy Maternity and Children Hospital, Istanbul, Turkey
2 Defne 02 B-10 Daire 17, Bahcesehir Istanbul, Turkey
3 SSK Bakirkoy Dogumevi, Yenimahalle Bakirkoy, Turkey
BMC Pregnancy and Childbirth 2001, 1:8 doi:10.1186/1471-2393-1-8Published: 11 December 2001
Caudal regression is a rare syndrome which has a spectrum of congenital malformations ranging from simple anal atresia to absence of sacral, lumbar and possibly lower thoracic vertebrae, to the most severe form which is known as sirenomelia. Maternal diabetes, genetic predisposition and vascular hypoperfusion have been suggested as possible causative factors.
We report a case of caudal regression syndrome diagnosed in utero at 22 weeks' of gestation. Prenatal ultrasound examination revealed a sudden interruption of the spine and "frog-like" position of lower limbs. Termination of pregnancy and autopsy findings confirmed the diagnosis.
Prenatal ultrasonographic diagnosis of caudal regression syndrome is possible at 22 weeks' of gestation by ultrasound examination.