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Park, Cho, Lee, Shin, Lee, Lee, and Paik: Prenatal diagnosis of caudal regression syndrome: A case report
Case Report
Korean Journal of Obstetrics & Gynecology

Korean Journal of Obstetrics & Gynecology 2011; 54(5): 265-268.

Published online: 25 May 2011

DOI: https://doi.org/10.5468/KJOG.2011.54.5.265

Prenatal diagnosis of caudal regression syndrome: A case report

Ji Eun Park, MD1, In Ae Cho, MD1, Dong Hee Lee, MD1, Jeong Kyu Shin, MD1, 2, Soon Ae Lee, MD1, 2, Jong Hak Lee, MD1, 2, Won Young Paik, MD1, 2

1Department of Obstetrics and Gynecology, Gyeongsang National University School of Medicine, Jinju, Korea.

2Gyeongsang Institute of Health Sciences, Gyeongsang National University, Jinju, Korea.

Corresponding author: Won Young Paik, MD. Department of Obstetrics and Gynecology, Gyeongsang National University School of Medicine, 79 Gangnam-ro, Jinju 660-702, Korea. Tel: +82-55-750-8152, Fax: +82-55-759-1118, wypaik@gnu.ac.kr

Received 21 March 2011       Accepted 20 April 2011

Copyright © 2011. Korean Society of Obstetrics and Gynecology

(open-access):

This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/3.0/) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.

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.

Keywords: Caudal regression syndrome, Prenatal ultrasonography

Figures and Tables

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).
kjog-54-265-g001
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).
kjog-54-265-g002

References

1. Duhamel B. From the mermaid to anal imperforation: the syndrome of caudal regression. Arch Dis Child. 1961. 36:152–155.
2. Jaffe R, Zeituni M, Fejgin M. Caudal regression syndrome. Fetus Spinal Anomalies. 1991. 7561:1–3.
3. Rojansky N, Fasouliotis SJ, Ariel I, Nadjari M. Extreme caudal agenesis. Possible drug-related etiology? J Reprod Med. 2002. 47:241–245.
4. Subtil D, Cosson M, Houfflin V, Vaast P, Valat A, Puech F. Early detection of caudal regression syndrome: specific interest and findings in three cases. Eur J Obstet Gynecol Reprod Biol. 1998. 80:109–112.
5. Hirano H, Tomura N, Watarai J, Kato T. Caudal regression syndrome: MR appearance. Comput Med Imaging Graph. 1998. 22:73–76.
6. Kucera J. Rate and type of congenital anomalies among offspring of diabetic women. J Reprod Med. 1971. 7:73–82.
7. Reece EA, Homko CJ. Why do diabetic women deliver malformed infants? Clin Obstet Gynecol. 2000. 43:32–45.
8. Singh SK, Singh RD, Sharma A. Caudal regression syndrome: case report and review of literature. Pediatr Surg Int. 2005. 21:578–581.
9. Wang J, Spitz L, Hayward R, Kiely E, Hall CM, O'Donoghue DP, et al. Sacral dysgenesis associated with terminal deletion of chromosome 7q: a report of two families. Eur J Pediatr. 1999. 158:902–905.
10. Rodríguez L, Sanchís A, Villa A, Cánovas A, Peris S, Estívalis M, et al. Ring chromosome 7 and sacral agenesis. Am J Med Genet. 2000. 94:52–58.
11. Bashiri A, Sheizaf B, Burstein E, Landau D, Hershkovitz R, Mazor M. Three dimensional ultrasound diagnosis of caudal regression syndrome at 14 gestational weeks. Arch Gynecol Obstet. 2009. 280:505–507.
12. Twickler D, Budorick N, Pretorius D, Grafe M, Currarino G. Caudal regression versus sirenomelia: sonographic clues. J Ultrasound Med. 1993. 12:323–330.
13. Moon Y, Kim JH, Ahn OJ, Jeon SW, Hwang BC. A case of caudal regression syndrome diagnosed by prenatal ultrasonography. Korean J Obstet Gynecol. 2005. 48:1788–1792.
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