Skip to main content

Thank you for visiting nature.com. You are using a browser version with limited support for CSS. To obtain the best experience, we recommend you use a more up to date browser (or turn off compatibility mode in Internet Explorer). In the meantime, to ensure continued support, we are displaying the site without styles and JavaScript.

  • Perinatal/Neonatal Casebook
  • Published:

Perinatal/Neonatal Case Book

Caudal Regression Syndrome in Twin Pregnancy With Type II Diabetes

Abstract

Caudal Regression Syndrome (CRS) is a rare fetal complication of diabetic pregnancy, which can result in long-term neurological, urologic, and orthopedic complications. Although the exact teratogenic mechanism is not known, hyperglycemia appears to play a crucial role as a teratogen, and therefore, stringent control of diabetes preconceptually and in early pregnancy is presumed to reduce the risk of occurrence. We report an unusual case of CRS affecting only one of a set of monozygotic twins, suggesting that as yet, unidentified factors other than hyperglycemia are included in its causation.

This is a preview of subscription content, access via your institution

Access options

Buy this article

Prices may be subject to local taxes which are calculated during checkout

Figure 1
Figure 2

Similar content being viewed by others

References

  1. Kalter H . Case reports of malformations associated with maternal diabetes: History and critique Clin Genet 1993 43: 174–9

    Article  CAS  PubMed  Google Scholar 

  2. Duhamel B . From the mermaid to anal imperforation: The syndrome of caudal regression Arch Dis Child 1961 36: 152–5

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  3. Twickler D, Budorick N, Pretorius D et al. Caudal regression versus sirenomelia: Sonographic clues J Ultrasound Med 1993 12: 323–30

    Article  CAS  PubMed  Google Scholar 

  4. Volpe J . Neurology of the Newborn Philadelphia: W.B. Saunders 1995 p 4–5

    Google Scholar 

  5. Naidich T, Zimmerman R, McLone DG et al. Congenital anomalies of the spine and spinal cord: embryology and malformations In: Atlas S, editor. Magnetic Resonance Imaging of the Brain and Spine Philadelphia: Lippincott-Raven 1996 p 1265–337

  6. Nievelstein RA, Valk J, Smit LM et al. MR of the Caudal Regression Syndrome: Embryologic implications AJNR, Am J Neuroradiol 1994 15: 1021–9

    CAS  PubMed  Google Scholar 

  7. Pang D . Sacral agenesis and caudal spinal cord malformations Neurosurgery 1993 32: 755–78

    Article  CAS  PubMed  Google Scholar 

  8. Tortori-Donati P, Fondelli MP, Rossi A et al. Segmental spinal dysgenesis: Neuroradiologic findings with clinical and embryologic correlation AJNR, Am J Neuroradiol 1999 20: 445–56

    CAS  PubMed  Google Scholar 

  9. Depraetere M, Dehauwere R, Marien P et al. Severe axial mesodermal dysplasia spectrum in an infant of a diabetic mother Genet Counsel 1995 6: 303–7

    CAS  PubMed  Google Scholar 

  10. Subtil D, Cosson M, Houfflin V et al. Early detection of Caudal Regression Syndrome: Specific interest and findings in three cases Eur J Obstet Gynecol Reprod Biol 1998 80: 109–12

    Article  CAS  PubMed  Google Scholar 

  11. Stocker JT, Heifetz SA . Sirenomelia. A morphological study of 33 cases and review of the literature Perspect Pediatr Pathol 1987 10: 7–50

    CAS  PubMed  Google Scholar 

  12. Davies J, Chazen E, Nance WE . Symmelia in one of monozygotic twins Teratology 1971 4: 367–78

    Article  CAS  PubMed  Google Scholar 

  13. Stevenson RE, Jones KL, Phelan MC et al. Vascular steal: The pathogenetic mechanism producing sirenomelia and associated defects of the viscera and soft tissues Pediatrics 1986 78: 451–7

    CAS  PubMed  Google Scholar 

  14. Mills JL . Malformations in infants of diabetic mothers Teratology 1982 25: 385–94

    Article  CAS  PubMed  Google Scholar 

  15. Reece EA, Pinter E, Leranth CZ et al. Ultrastructural analysis of malformations of the embryonic neural axis induced by in vitro hyperglycemic conditions Teratology 1985 32: 363–73

    Article  CAS  PubMed  Google Scholar 

  16. Reece EA, Homko CJ . Why do diabetic women deliver malformed infants? Clin Obstet Gynecol 2000 43: 32–45

    Article  CAS  PubMed  Google Scholar 

  17. Comess LJ, Bennett PH, Burch TA et al. Congenital anomalies and diabetes in the Prima Indians of Arizona Diabetes 1969 18: 471–7

    Article  CAS  PubMed  Google Scholar 

  18. Otani H, Tanaka O, Tatewaki R et al. Diabetic environment and genetic predisposition as causes of congenital malformations in NOD mouse embryos Diabetes 1991 40: 1245–50

    Article  CAS  PubMed  Google Scholar 

  19. Cagliero E, Forsberg H, Sala R et al. Maternal diabetes induces increased expression of extracellular matrix components in rat embryos Diabetes 1993 42: 975–80

    Article  CAS  PubMed  Google Scholar 

  20. Lee AT, Plump A, DeSimone C et al. A role for DNA mutations in diabetes-associated teratogenesis in transgenic embryos Diabetes 1995 44: 20–4

    Article  CAS  PubMed  Google Scholar 

  21. Machado AF, Zimmerman EF, Hovland DN Jr et al. Diabetic embryopathy in C57BL/6J mice. Altered fetal sex ratio and impact of the splotch allele Diabetes 2001 50: 1193–9

    Article  CAS  PubMed  Google Scholar 

  22. Singer M, Berg P . Genes and Genomes California: University Science Books 1991 p 585–6

    Google Scholar 

  23. Kaur S, Singh G, Stock JL et al. Dominant mutation of the murine Hox-2.2 gene results in developmental abnormalities J Exp Zool 1992 264: 323–36

    Article  CAS  PubMed  Google Scholar 

  24. Benson GV, Lim H, Paria BC et al. Mechanisms of reduced fertility in Hoxa-10 mutant mice: Uterine homeosis and loss of maternal Hoxa-10 expression Development 1996 122: 2687–96

    CAS  PubMed  Google Scholar 

  25. Kondo T, Dolle P, Zakany J et al. Function of posterior HoxD genes in the morphogenesis of the anal sphincter Development 1996 122: 2651–9

    CAS  PubMed  Google Scholar 

  26. Hsieh-Li HM, Witte DP, Weinstein M et al. Hoxa 11 structure, extensive antisense transcription, and function in male and female fertility Development 1995 121: 1373–5

    CAS  PubMed  Google Scholar 

  27. Mortlock DP, Innis JW . Mutation of HOXA13 in hand–foot–genital syndrome Nat Genet 1997 15: 179–80

    Article  CAS  PubMed  Google Scholar 

  28. Nowaczyk MJ, Huggins MJ, Tomkins DJ et al. Holoprosencephaly, sacral anomalies, and situs ambiguus in an infant with partial monosomy 7q/trisomy 2p and SHH and HLXB9 haploinsufficiency Clin Genet 2000 57: 388–93

    Article  CAS  PubMed  Google Scholar 

  29. Ross AJ, Ruiz-Perez V, Wang Y et al. A homeobox gene, HLXB9, is the major locus for dominantly inherited sacral agenesis Nat Genet 1998 20: 358–61

    Article  CAS  PubMed  Google Scholar 

  30. Hagan DM, Ross AJ, Strachan T et al. Mutation analysis and embryonic expression of the HLXB9 Currarino syndrome gene Am J Hum Genet 2000 66: 1504–15

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  31. Jacobs HC, Bogue CW, Pinter E et al. Fetal lung mRNA levels of Hox genes are differentially altered by maternal diabetes and butyrate in rats Pediatr Res 1998 44: 99–104

    Article  CAS  PubMed  Google Scholar 

  32. Mills JL, Baker L, Goldman AS . Malformations in infants of diabetic mothers occur before the seventh gestational week Diabetes 1979 28: 292–3

    Article  CAS  PubMed  Google Scholar 

  33. Baker L, Egler JM, Klein SH et al. Meticulous control of diabetes during organogenesis prevents congenital lumbosacral defects in rats Diabetes 1981 30: 955–9

    Article  CAS  PubMed  Google Scholar 

  34. Adam PA, Teramo K, Raiha N et al. Human fetal insulin metabolism early in gestation. Response to acute elevation of the fetal glucose concentration and placental transfer of human insulin I-131 Diabetes 1969 18: 409–16

    Article  CAS  PubMed  Google Scholar 

  35. Steinke J, Driscoll SG . The extractable insulin content of pancreas from fetuses and infants of diabetic and control mothers Diabetes 1965 14: 573–8

    Article  CAS  PubMed  Google Scholar 

  36. Miller E, Hare JW, Cloherty JP et al. Elevated maternal hemoglobin A1c in early pregnancy and major congenital anomalies in infants of diabetic mothers N Engl J Med 1981 304: 1331–4

    Article  CAS  PubMed  Google Scholar 

  37. Greene MF, Hare JW, Cloherty JP et al. First-trimester hemoglobin A1c and risk for major malformation and spontaneous abortion in diabetic pregnancy Teratology 1989 39: 225–31

    Article  CAS  PubMed  Google Scholar 

  38. Willhoite MB, Bennert HW, Palomaki GE et al. The impact of preconception counselling on pregnancy outcomes. The experience of the Maine Diabetes in Pregnancy Program Diabetes Care 1993 16: 450–5

    Article  CAS  PubMed  Google Scholar 

Download references

Acknowledgements

We thank P. J. Helms and O. daSilva for reviewing the manuscript, and the Department of Medical Illustration at the Medical School, University of Aberdeen, for preparing the photographs.

Author information

Authors and Affiliations

Authors

Rights and permissions

Reprints and permissions

About this article

Cite this article

Zaw, W., Stone, D. Caudal Regression Syndrome in Twin Pregnancy With Type II Diabetes. J Perinatol 22, 171–174 (2002). https://doi.org/10.1038/sj.jp.7210614

Download citation

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1038/sj.jp.7210614

This article is cited by

Search

Quick links