link
Bookmarks
Caudal Regression Sequence
Brian L. Shaffer, MD; Paula J. Woodward, MD
To access 4,300 diagnoses written by the world's leading experts in radiology, please log in or subscribe.Subscribe
0
6
2
1

KEY FACTS

  • Terminology

    • Imaging

      • Top Differential Diagnoses

        • Clinical Issues

          • Diagnostic Checklist

            TERMINOLOGY

            • Abbreviations

              • Caudal regression sequence (CRS)
            • Synonyms

              • Caudal dysplasia sequence
              • Caudal regression syndrome
              • Caudal dysgenesis syndrome
              • Sacral agenesis
              • Axial mesodermal dysplasia spectrum
                • Additional midline craniofacial anomalies
              • Sacral defect with anterior meningocele
              • Caudal dysplasia sequence
              • Agenesis of lower vertebral column
            • Definitions

              • Constellation of malformations of lumbar and sacral spine and corresponding spinal cord segments
                • Abnormal innervation affects lower extremity, GI, and GU 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. Warner T et al: Caudal regression syndrome-a review focusing on genetic associations. World Neurosurg. 138:461-7, 2020
                                        2. Mottet N et al: How to explore fetal sacral agenesis without open dysraphism: key prenatal imaging and clinical implications. J Ultrasound Med. 37(7):1807-20, 2018
                                        3. Kanagasabai K et al: Severe caudal regression syndrome with overlapping features of VACTERL complex: antenatal detection and follow up. BJR Case Rep. 3(2):20150356, 2017
                                        4. Morel B et al: Prenatal sacral anomalies leading to the detection of associated spinal cord malformations. Fetal Diagn Ther. 42(4):294-301, 2017
                                        5. Yadav VK et al: Chilli sign: pathognomonic sign for ruling out sacral agenesis on foetal MRI. J Clin Diagn Res. 11(9):TJ01, 2017
                                        6. Isik Kaygusuz E et al: Sirenomelia: a review of embryogenic theories and discussion of the differences from caudal regression syndrome. J Matern Fetal Neonatal Med. 29(6):949-53, 2016
                                        7. Bayraktutan U et al: Caudal regression syndrome with diastematomyelia, multiple vertebral anomalies, and rotoscoliosis in an adult. Spine J. 15(12):e47-8, 2015
                                        8. Demir MK et al: Caudal regression syndrome with diplomyelia (type 2 split cord malformation), tethered cord, syringomyelia, and horse-shoe kidney. Spine J. 16(3):e193-4, 2015
                                        9. Negrete LM et al: In utero diagnosis of caudal regression syndrome. Radiol Case Rep. 10(1):1049, 2015
                                        10. Puneeth KT et al: High abrupt cord termination: a hallmark of caudal regression syndrome. BMJ Case Rep. 2014, 2014
                                        11. Beaumont C et al: Prenatal imaging of caudal regression syndrome with postnatal correlation: novel insights. Fetal Diagn Ther. 34(2):131-2, 2013
                                        12. Kokrdova Z: Caudal regression syndrome. J Obstet Gynaecol. 33(2):202-3, 2013
                                        13. Palacios-Marqués A et al: Prenatal diagnosis of caudal dysplasia sequence associated with undiagnosed type I diabetes. BMJ Case Rep. 2013, 2013
                                        14. Sharma P et al: Clinico-radiologic findings in group II caudal regression syndrome. J Clin Imaging Sci. 3:26, 2013
                                        15. Duczkowska A et al: Magnetic resonance imaging in the evaluation of the fetal spinal canal contents. Brain Dev. 33(1):10-20, 2010
                                        16. Bruce JH et al: Caudal dysplasia syndrome and sirenomelia: are they part of a spectrum? Fetal Pediatr Pathol. 28(3):109-31, 2009
                                        17. 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
                                        18. Basu S et al: Syringomyelia in caudal dysplasia sequence. J Assoc Physicians India. 51:820-3, 2003
                                        19. 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
                                        20. 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
                                        21. González-Quintero VH et al: Sonographic diagnosis of caudal regression in the first trimester of pregnancy. J Ultrasound Med. 21(10):1175-8, 2002
                                        Related Anatomy
                                        Loading...
                                        Related Differential Diagnoses
                                        Loading...
                                        References
                                        Tables

                                        Tables

                                        KEY FACTS

                                        • Terminology

                                          • Imaging

                                            • Top Differential Diagnoses

                                              • Clinical Issues

                                                • Diagnostic Checklist

                                                  TERMINOLOGY

                                                  • Abbreviations

                                                    • Caudal regression sequence (CRS)
                                                  • Synonyms

                                                    • Caudal dysplasia sequence
                                                    • Caudal regression syndrome
                                                    • Caudal dysgenesis syndrome
                                                    • Sacral agenesis
                                                    • Axial mesodermal dysplasia spectrum
                                                      • Additional midline craniofacial anomalies
                                                    • Sacral defect with anterior meningocele
                                                    • Caudal dysplasia sequence
                                                    • Agenesis of lower vertebral column
                                                  • Definitions

                                                    • Constellation of malformations of lumbar and sacral spine and corresponding spinal cord segments
                                                      • Abnormal innervation affects lower extremity, GI, and GU 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. Warner T et al: Caudal regression syndrome-a review focusing on genetic associations. World Neurosurg. 138:461-7, 2020
                                                                              2. Mottet N et al: How to explore fetal sacral agenesis without open dysraphism: key prenatal imaging and clinical implications. J Ultrasound Med. 37(7):1807-20, 2018
                                                                              3. Kanagasabai K et al: Severe caudal regression syndrome with overlapping features of VACTERL complex: antenatal detection and follow up. BJR Case Rep. 3(2):20150356, 2017
                                                                              4. Morel B et al: Prenatal sacral anomalies leading to the detection of associated spinal cord malformations. Fetal Diagn Ther. 42(4):294-301, 2017
                                                                              5. Yadav VK et al: Chilli sign: pathognomonic sign for ruling out sacral agenesis on foetal MRI. J Clin Diagn Res. 11(9):TJ01, 2017
                                                                              6. Isik Kaygusuz E et al: Sirenomelia: a review of embryogenic theories and discussion of the differences from caudal regression syndrome. J Matern Fetal Neonatal Med. 29(6):949-53, 2016
                                                                              7. Bayraktutan U et al: Caudal regression syndrome with diastematomyelia, multiple vertebral anomalies, and rotoscoliosis in an adult. Spine J. 15(12):e47-8, 2015
                                                                              8. Demir MK et al: Caudal regression syndrome with diplomyelia (type 2 split cord malformation), tethered cord, syringomyelia, and horse-shoe kidney. Spine J. 16(3):e193-4, 2015
                                                                              9. Negrete LM et al: In utero diagnosis of caudal regression syndrome. Radiol Case Rep. 10(1):1049, 2015
                                                                              10. Puneeth KT et al: High abrupt cord termination: a hallmark of caudal regression syndrome. BMJ Case Rep. 2014, 2014
                                                                              11. Beaumont C et al: Prenatal imaging of caudal regression syndrome with postnatal correlation: novel insights. Fetal Diagn Ther. 34(2):131-2, 2013
                                                                              12. Kokrdova Z: Caudal regression syndrome. J Obstet Gynaecol. 33(2):202-3, 2013
                                                                              13. Palacios-Marqués A et al: Prenatal diagnosis of caudal dysplasia sequence associated with undiagnosed type I diabetes. BMJ Case Rep. 2013, 2013
                                                                              14. Sharma P et al: Clinico-radiologic findings in group II caudal regression syndrome. J Clin Imaging Sci. 3:26, 2013
                                                                              15. Duczkowska A et al: Magnetic resonance imaging in the evaluation of the fetal spinal canal contents. Brain Dev. 33(1):10-20, 2010
                                                                              16. Bruce JH et al: Caudal dysplasia syndrome and sirenomelia: are they part of a spectrum? Fetal Pediatr Pathol. 28(3):109-31, 2009
                                                                              17. 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
                                                                              18. Basu S et al: Syringomyelia in caudal dysplasia sequence. J Assoc Physicians India. 51:820-3, 2003
                                                                              19. 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
                                                                              20. 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
                                                                              21. González-Quintero VH et al: Sonographic diagnosis of caudal regression in the first trimester of pregnancy. J Ultrasound Med. 21(10):1175-8, 2002