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Caudal Regression Sequence
Paula J. Woodward, MD
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KEY FACTS

  • Terminology

    • Imaging

      • Top Differential Diagnoses

        • Clinical Issues

          • Diagnostic Checklist

            TERMINOLOGY

            • Abbreviations

              • Caudal regression sequence (CRS)
            • Synonyms

              • Caudal dysplasia
              • Sacral agenesis
              • Axial mesodermal dysplasia spectrum
                • Additional midline craniofacial anomalies
            • Definitions

              • Malformation complex characterized by varying degrees of developmental failure involving sacral and lumbar vertebrae and corresponding segments of spinal cord
                • Abnormal innervation affects lower extremity development

            IMAGING

            • General Features

              • Ultrasonographic Findings

                • MR Findings

                  • Imaging Recommendations

                    DIFFERENTIAL DIAGNOSIS

                      PATHOLOGY

                      • General Features

                        • Staging, Grading, & Classification

                          • Gross Pathologic & Surgical Features

                            CLINICAL ISSUES

                            • Presentation

                              • Demographics

                                • Natural History & Prognosis

                                  • Treatment

                                    DIAGNOSTIC CHECKLIST

                                    • Consider

                                      • Image Interpretation Pearls

                                        Selected References

                                        1. Bayraktutan U et al: Caudal regression syndrome with diastematomyelia, multiple vertebral anomalies, and rotoscoliosis in an adult. Spine J. 15(12):e47-8, 2015
                                        2. Demir MK et al: Caudal regression syndrome with diplomyelia (type 2 split cord malformation), tethered cord, syringomyelia, and horse-shoe kidney. Spine J. ePub, 2015
                                        3. Puneeth KT et al: High abrupt cord termination: a hallmark of caudal regression syndrome. BMJ Case Rep. 2014, 2014
                                        4. Beaumont C et al: Prenatal imaging of caudal regression syndrome with postnatal correlation: novel insights. Fetal Diagn Ther. 34(2):131-2, 2013
                                        5. Kokrdova Z: Caudal regression syndrome. J Obstet Gynaecol. 33(2):202-3, 2013
                                        6. Palacios-Marqués A et al: Prenatal diagnosis of caudal dysplasia sequence associated with undiagnosed type I diabetes. BMJ Case Rep. 2013, 2013
                                        7. Sharma P et al: Clinico-radiologic findings in group II caudal regression syndrome. J Clin Imaging Sci. 3:26, 2013
                                        8. Duczkowska A et al: Magnetic resonance imaging in the evaluation of the fetal spinal canal contents. Brain Dev. Epub ahead of print, 2010
                                        9. Bruce JH et al: Caudal dysplasia syndrome and sirenomelia: are they part of a spectrum? Fetal Pediatr Pathol. 28(3):109-31, 2009
                                        10. Versiani BR et al: Caudal dysplasia sequence: severe phenotype presenting in offspring of patients with gestational and pregestational diabetes. Clin Dysmorphol. 13(1):1-5, 2004
                                        11. Basu S et al: Syringomyelia in caudal dysplasia sequence. J Assoc Physicians India. 51:820-3, 2003
                                        12. De Biasio P et al: Ossification timing of sacral vertebrae by ultrasound in the mid-second trimester of pregnancy. Prenat Diagn. 23(13):1056-9, 2003
                                        13. Martins JL et al: Anorectal anomaly associated with caudal regression: late evaluation after posterior sagittal anorectoplasty. Pediatr Surg Int. 19(1-2):106-8, 2003
                                        14. Parilla BV et al: Antenatal detection of skeletal dysplasias. J Ultrasound Med. 22(3):255-8; quiz 259-61, 2003
                                        15. Rojansky N et al: Extreme caudal agenesis. Possible drug-related etiology? J Reprod Med. 47(3):241-5, 2002
                                        16. Bohring A et al: Polytopic anomalies with agenesis of the lower vertebral column. Am J Med Genet. 87(2):99-114, 1999
                                        17. Fukada Y et al: Caudal regression syndrome detected in a fetus with increased nuchal translucency. Acta Obstet Gynecol Scand. 78(7):655-6, 1999
                                        18. Cortes D et al: Cryptorchidism as a caudal developmental field defect. A new description of cryptorchidism associated with malformations and dysplasias of the kidneys, the ureters and the spine from T10 to S5. APMIS. 106(10):953-8, 1998
                                        19. Subtil D et al: Early detection of caudal regression syndrome: specific interest and findings in three cases. Eur J Obstet Gynecol Reprod Biol. 80(1):109-12, 1998
                                        20. Depraetere M et al: Severe axial mesodermal dysplasia spectrum in an infant of a diabetic mother. Genet Couns. 6(4):303-7, 1995
                                        21. Rossi R et al: Extreme hypotrophy of the lower body pole, extensive hypoplasia of the spinal column and multiple anomalies of abdominal organs: a maximal variant of the caudal regression sequence? Clin Dysmorphol. 4(1):87-92, 1995
                                        22. Adra A et al: Caudal regression syndrome: etiopathogenesis, prenatal diagnosis, and perinatal management. Obstet Gynecol Surv. 49(7):508-16, 1994
                                        23. Boemers TM et al: Urodynamic evaluation of children with the caudal regression syndrome (caudal dysplasia sequence). J Urol. 151(4):1038-40, 1994
                                        24. Baxi L et al: Early detection of caudal regression syndrome with transvaginal scanning. Obstet Gynecol. 75(3 Pt 2):486-9, 1990
                                        Related Anatomy
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                                        Related Differential Diagnoses
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                                        References
                                        Tables

                                        Tables

                                        KEY FACTS

                                        • Terminology

                                          • Imaging

                                            • Top Differential Diagnoses

                                              • Clinical Issues

                                                • Diagnostic Checklist

                                                  TERMINOLOGY

                                                  • Abbreviations

                                                    • Caudal regression sequence (CRS)
                                                  • Synonyms

                                                    • Caudal dysplasia
                                                    • Sacral agenesis
                                                    • Axial mesodermal dysplasia spectrum
                                                      • Additional midline craniofacial anomalies
                                                  • Definitions

                                                    • Malformation complex characterized by varying degrees of developmental failure involving sacral and lumbar vertebrae and corresponding segments of spinal cord
                                                      • Abnormal innervation affects lower extremity development

                                                  IMAGING

                                                  • General Features

                                                    • Ultrasonographic Findings

                                                      • MR Findings

                                                        • Imaging Recommendations

                                                          DIFFERENTIAL DIAGNOSIS

                                                            PATHOLOGY

                                                            • General Features

                                                              • Staging, Grading, & Classification

                                                                • Gross Pathologic & Surgical Features

                                                                  CLINICAL ISSUES

                                                                  • Presentation

                                                                    • Demographics

                                                                      • Natural History & Prognosis

                                                                        • Treatment

                                                                          DIAGNOSTIC CHECKLIST

                                                                          • Consider

                                                                            • Image Interpretation Pearls

                                                                              Selected References

                                                                              1. Bayraktutan U et al: Caudal regression syndrome with diastematomyelia, multiple vertebral anomalies, and rotoscoliosis in an adult. Spine J. 15(12):e47-8, 2015
                                                                              2. Demir MK et al: Caudal regression syndrome with diplomyelia (type 2 split cord malformation), tethered cord, syringomyelia, and horse-shoe kidney. Spine J. ePub, 2015
                                                                              3. Puneeth KT et al: High abrupt cord termination: a hallmark of caudal regression syndrome. BMJ Case Rep. 2014, 2014
                                                                              4. Beaumont C et al: Prenatal imaging of caudal regression syndrome with postnatal correlation: novel insights. Fetal Diagn Ther. 34(2):131-2, 2013
                                                                              5. Kokrdova Z: Caudal regression syndrome. J Obstet Gynaecol. 33(2):202-3, 2013
                                                                              6. Palacios-Marqués A et al: Prenatal diagnosis of caudal dysplasia sequence associated with undiagnosed type I diabetes. BMJ Case Rep. 2013, 2013
                                                                              7. Sharma P et al: Clinico-radiologic findings in group II caudal regression syndrome. J Clin Imaging Sci. 3:26, 2013
                                                                              8. Duczkowska A et al: Magnetic resonance imaging in the evaluation of the fetal spinal canal contents. Brain Dev. Epub ahead of print, 2010
                                                                              9. Bruce JH et al: Caudal dysplasia syndrome and sirenomelia: are they part of a spectrum? Fetal Pediatr Pathol. 28(3):109-31, 2009
                                                                              10. Versiani BR et al: Caudal dysplasia sequence: severe phenotype presenting in offspring of patients with gestational and pregestational diabetes. Clin Dysmorphol. 13(1):1-5, 2004
                                                                              11. Basu S et al: Syringomyelia in caudal dysplasia sequence. J Assoc Physicians India. 51:820-3, 2003
                                                                              12. De Biasio P et al: Ossification timing of sacral vertebrae by ultrasound in the mid-second trimester of pregnancy. Prenat Diagn. 23(13):1056-9, 2003
                                                                              13. Martins JL et al: Anorectal anomaly associated with caudal regression: late evaluation after posterior sagittal anorectoplasty. Pediatr Surg Int. 19(1-2):106-8, 2003
                                                                              14. Parilla BV et al: Antenatal detection of skeletal dysplasias. J Ultrasound Med. 22(3):255-8; quiz 259-61, 2003
                                                                              15. Rojansky N et al: Extreme caudal agenesis. Possible drug-related etiology? J Reprod Med. 47(3):241-5, 2002
                                                                              16. Bohring A et al: Polytopic anomalies with agenesis of the lower vertebral column. Am J Med Genet. 87(2):99-114, 1999
                                                                              17. Fukada Y et al: Caudal regression syndrome detected in a fetus with increased nuchal translucency. Acta Obstet Gynecol Scand. 78(7):655-6, 1999
                                                                              18. Cortes D et al: Cryptorchidism as a caudal developmental field defect. A new description of cryptorchidism associated with malformations and dysplasias of the kidneys, the ureters and the spine from T10 to S5. APMIS. 106(10):953-8, 1998
                                                                              19. Subtil D et al: Early detection of caudal regression syndrome: specific interest and findings in three cases. Eur J Obstet Gynecol Reprod Biol. 80(1):109-12, 1998
                                                                              20. Depraetere M et al: Severe axial mesodermal dysplasia spectrum in an infant of a diabetic mother. Genet Couns. 6(4):303-7, 1995
                                                                              21. Rossi R et al: Extreme hypotrophy of the lower body pole, extensive hypoplasia of the spinal column and multiple anomalies of abdominal organs: a maximal variant of the caudal regression sequence? Clin Dysmorphol. 4(1):87-92, 1995
                                                                              22. Adra A et al: Caudal regression syndrome: etiopathogenesis, prenatal diagnosis, and perinatal management. Obstet Gynecol Surv. 49(7):508-16, 1994
                                                                              23. Boemers TM et al: Urodynamic evaluation of children with the caudal regression syndrome (caudal dysplasia sequence). J Urol. 151(4):1038-40, 1994
                                                                              24. Baxi L et al: Early detection of caudal regression syndrome with transvaginal scanning. Obstet Gynecol. 75(3 Pt 2):486-9, 1990