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. 2001;1(1):8.
doi: 10.1186/1471-2393-1-8.

Prenatal diagnosis of Caudal Regression Syndrome : a case report

Halil Aslan  1 , Halil Yanik, Nurgul Celikaslan, Gokhan Yildirim, Yavuz Ceylan
Affiliations

Prenatal diagnosis of Caudal Regression Syndrome : a case report

Halil Aslan et al. BMC Pregnancy Childbirth. 2001.

Abstract

BACKGROUND: 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. CASE PRESENTATION: 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. CONCLUSION: Prenatal ultrasonographic diagnosis of caudal regression syndrome is possible at 22 weeks' of gestation by ultrasound examination.

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Figures

Figure 1
Figure 1
Sonography of abrupt termination of spine at lumbosacral level.
Figure 2
Figure 2
Note the "frog-like" position of lower extremities.
Figure 3
Figure 3
Antero-posterior radiographic view, showing missing ribs, absent lumbosacral vertebrae, hypoplastic pelvis and "frog-like" position of the lower extremities.
See this image and copyright information in PMC

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