Korean J Obstet Gynecol.  2011 May;54(5):265-268. 10.5468/KJOG.2011.54.5.265.

Prenatal diagnosis of caudal regression syndrome: A case report

• Park JE
• Cho IA
• Lee DH
• Shin JK
• Lee SA
• Lee JH
• Paik WY

• KMID: 2078023
• DOI: http://doi.org/10.5468/KJOG.2011.54.5.265

Abstract

Caudal regression syndrome is rare congenital defect, characterized by the absence of the sacrum, and defects of variable portion of lumbar spine, associated with anomalies from different systems. Although hyperglycemia related to maternal diabetes, genetic predisposition, teratogens, and vascular anomalies altering blood flow have been hypothesized to play a role in its pathogenesis, but the cause of this rare condition is not clear. We report a case of caudal regression syndrome diagnosed by prenatal ultrasonography at 16 weeks of gestation.

Keyword

Caudal regression syndrome; Prenatal ultrasonography

MeSH Terms

Anal Canal
Congenital Abnormalities
Digestive System Abnormalities
Genetic Predisposition to Disease
Hyperglycemia
Pregnancy
Prenatal Diagnosis
Rectum
Sacrum
Spine
Syringomyelia
Teratogens
Ultrasonography, Prenatal
Anal Canal
Digestive System Abnormalities
Rectum
Sacrum
Syringomyelia
Teratogens

Figure

• 

  Fig. 1 (A) Transabdominal sonography shows abrupt termination of spine at lumbosacral level (arrow). (B) A 3-Dimensional mode image showing that the vertebral column ends at the lumbar level (arrow).

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  Fig. 2 Infantogram shows absence of lumbosacral vertebrae (arrow), frog-like position of the Rt. lower extremities, Lt. knee dislocation and absence of Lt. foot bone (open arrow).

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