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Caudal Regression Syndrome
Kevin R. Moore, MD; Jeffrey S. Ross, MD
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KEY FACTS

  • Terminology

    • Imaging

      • Top Differential Diagnoses

        • Pathology

          • Clinical Issues

            • Diagnostic Checklist

              TERMINOLOGY

              • Abbreviations

                • Caudal regression syndrome (CRS)
              • Synonyms

                • Sacral agenesis, lumbosacral hypogenesis
              • Definitions

                • Constellation of caudal developmental growth abnormalities and associated soft tissue anomalies

              IMAGING

              • General Features

                • Radiographic Findings

                  • CT Findings

                    • MR Findings

                      • Ultrasonographic Findings

                        • Nonvascular Interventions

                          • Imaging Recommendations

                            DIFFERENTIAL DIAGNOSIS

                              PATHOLOGY

                              • General Features

                                • Staging, Grading, & Classification

                                  • Gross Pathologic & Surgical Features

                                    • Microscopic Features

                                      CLINICAL ISSUES

                                      • Presentation

                                        • Demographics

                                          • Natural History & Prognosis

                                            • Treatment

                                              DIAGNOSTIC CHECKLIST

                                              • Consider

                                                • Image Interpretation Pearls

                                                  Selected References

                                                  1. Szumera E et al: Atypical caudal regression syndrome with agenesis of lumbar spine and presence of sacrum - case report and literature review. J Spinal Cord Med. 41(4):496-500, 2018
                                                  2. Mehta DV: Magnetic resonance imaging in paediatric spinal dysraphism with comparative usefulness of various magnetic resonance sequences. J Clin Diagn Res. 11(8):TC17-22, 2017
                                                  3. Boruah DK et al: Magnetic resonance imaging analysis of caudal regression syndrome and concomitant anomalies in pediatric patients. J Clin Imaging Sci. 6:36, 2016
                                                  4. Chikkannaiah P et al: Sirenomelia with associated systemic anomalies: an autopsy pathologic illustration of a series of four cases. Pathol Res Pract. 210(7):444-9, 2014
                                                  5. Puneeth KT et al: High abrupt cord termination: a hallmark of caudal regression syndrome. BMJ Case Rep., 2014
                                                  6. Beaumont C et al: Prenatal imaging of caudal regression syndrome with postnatal correlation: novel insights. Fetal Diagn Ther. 34(2):131-2, 2013
                                                  7. Jeelani Y et al: Closed neural tube defects in children with caudal regression. Childs Nerv Syst. 29(9):1451-7, 2013
                                                  8. Palacios-Marqués A et al: Prenatal diagnosis of caudal dysplasia sequence associated with undiagnosed type I diabetes. BMJ Case Rep. 2013, 2013
                                                  9. Sharma P et al: Clinico-radiologic findings in group II caudal regression syndrome. J Clin Imaging Sci. 3:26, 2013
                                                  10. Bansal G et al: Unusual coexistence of caudal duplication and caudal regression syndromes. J Pediatr Surg. 46(1):256-8, 2011
                                                  11. Torre M et al: Long-term urologic outcome in patients with caudal regression syndrome, compared with meningomyelocele and spinal cord lipoma. J Pediatr Surg. 43(3):530-3, 2008
                                                  12. Nievelstein RA et al: Magnetic resonance imaging in children with anorectal malformations: embryologic implications. J Pediatr Surg. 37(8):1138-45, 2002
                                                  13. Catala M: Embryogenesis. Why do we need a new explanation for the emergence of spina bifida with lipoma? Childs Nerv Syst. 13(6):336-40, 1997
                                                  14. Heij HA et al: Abnormal anatomy of the lumbosacral region imaged by magnetic resonance in children with anorectal malformations. Arch Dis Child. 74(5):441-4, 1996
                                                  15. Nievelstein RA et al: MR of the caudal regression syndrome: embryologic implications. AJNR Am J Neuroradiol. 15(6):1021-9, 1994
                                                  16. Pang D: Sacral agenesis and caudal spinal cord malformations. Neurosurgery. 32(5):755-78; discussion 778-9, 1993
                                                  17. Barkovich AJ et al: The wedge-shaped cord terminus: a radiographic sign of caudal regression. AJNR Am J Neuroradiol. 10(6):1223-31, 1989
                                                  Related Anatomy
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                                                  Related Differential Diagnoses
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                                                  References
                                                  Tables

                                                  Tables

                                                  KEY FACTS

                                                  • Terminology

                                                    • Imaging

                                                      • Top Differential Diagnoses

                                                        • Pathology

                                                          • Clinical Issues

                                                            • Diagnostic Checklist

                                                              TERMINOLOGY

                                                              • Abbreviations

                                                                • Caudal regression syndrome (CRS)
                                                              • Synonyms

                                                                • Sacral agenesis, lumbosacral hypogenesis
                                                              • Definitions

                                                                • Constellation of caudal developmental growth abnormalities and associated soft tissue anomalies

                                                              IMAGING

                                                              • General Features

                                                                • Radiographic Findings

                                                                  • CT Findings

                                                                    • MR Findings

                                                                      • Ultrasonographic Findings

                                                                        • Nonvascular Interventions

                                                                          • Imaging Recommendations

                                                                            DIFFERENTIAL DIAGNOSIS

                                                                              PATHOLOGY

                                                                              • General Features

                                                                                • Staging, Grading, & Classification

                                                                                  • Gross Pathologic & Surgical Features

                                                                                    • Microscopic Features

                                                                                      CLINICAL ISSUES

                                                                                      • Presentation

                                                                                        • Demographics

                                                                                          • Natural History & Prognosis

                                                                                            • Treatment

                                                                                              DIAGNOSTIC CHECKLIST

                                                                                              • Consider

                                                                                                • Image Interpretation Pearls

                                                                                                  Selected References

                                                                                                  1. Szumera E et al: Atypical caudal regression syndrome with agenesis of lumbar spine and presence of sacrum - case report and literature review. J Spinal Cord Med. 41(4):496-500, 2018
                                                                                                  2. Mehta DV: Magnetic resonance imaging in paediatric spinal dysraphism with comparative usefulness of various magnetic resonance sequences. J Clin Diagn Res. 11(8):TC17-22, 2017
                                                                                                  3. Boruah DK et al: Magnetic resonance imaging analysis of caudal regression syndrome and concomitant anomalies in pediatric patients. J Clin Imaging Sci. 6:36, 2016
                                                                                                  4. Chikkannaiah P et al: Sirenomelia with associated systemic anomalies: an autopsy pathologic illustration of a series of four cases. Pathol Res Pract. 210(7):444-9, 2014
                                                                                                  5. Puneeth KT et al: High abrupt cord termination: a hallmark of caudal regression syndrome. BMJ Case Rep., 2014
                                                                                                  6. Beaumont C et al: Prenatal imaging of caudal regression syndrome with postnatal correlation: novel insights. Fetal Diagn Ther. 34(2):131-2, 2013
                                                                                                  7. Jeelani Y et al: Closed neural tube defects in children with caudal regression. Childs Nerv Syst. 29(9):1451-7, 2013
                                                                                                  8. Palacios-Marqués A et al: Prenatal diagnosis of caudal dysplasia sequence associated with undiagnosed type I diabetes. BMJ Case Rep. 2013, 2013
                                                                                                  9. Sharma P et al: Clinico-radiologic findings in group II caudal regression syndrome. J Clin Imaging Sci. 3:26, 2013
                                                                                                  10. Bansal G et al: Unusual coexistence of caudal duplication and caudal regression syndromes. J Pediatr Surg. 46(1):256-8, 2011
                                                                                                  11. Torre M et al: Long-term urologic outcome in patients with caudal regression syndrome, compared with meningomyelocele and spinal cord lipoma. J Pediatr Surg. 43(3):530-3, 2008
                                                                                                  12. Nievelstein RA et al: Magnetic resonance imaging in children with anorectal malformations: embryologic implications. J Pediatr Surg. 37(8):1138-45, 2002
                                                                                                  13. Catala M: Embryogenesis. Why do we need a new explanation for the emergence of spina bifida with lipoma? Childs Nerv Syst. 13(6):336-40, 1997
                                                                                                  14. Heij HA et al: Abnormal anatomy of the lumbosacral region imaged by magnetic resonance in children with anorectal malformations. Arch Dis Child. 74(5):441-4, 1996
                                                                                                  15. Nievelstein RA et al: MR of the caudal regression syndrome: embryologic implications. AJNR Am J Neuroradiol. 15(6):1021-9, 1994
                                                                                                  16. Pang D: Sacral agenesis and caudal spinal cord malformations. Neurosurgery. 32(5):755-78; discussion 778-9, 1993
                                                                                                  17. Barkovich AJ et al: The wedge-shaped cord terminus: a radiographic sign of caudal regression. AJNR Am J Neuroradiol. 10(6):1223-31, 1989