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Klippel-Feil Spectrum
Kevin R. Moore, MD
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KEY FACTS

  • Terminology

    • Imaging

      • Top Differential Diagnoses

        • Pathology

          • Clinical Issues

            • Diagnostic Checklist

              TERMINOLOGY

              • Synonyms

                • Klippel-Feil syndrome (KFS)
              • Definitions

                • Congenital spinal malformation characterized by segmentation failure of ≥ 2 cervical vertebrae ± thoracic, lumbar segmentation failure

              IMAGING

              • General Features

                • Radiographic Findings

                  • CT Findings

                    • MR Findings

                      • 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. Al-Tamimi YZ et al: Fracture through fused cervical segments following trauma in a patient with Klippel-Feil syndrome. Br J Neurosurg. 28(3):408-10, 2014
                                              2. Jasper A et al: The multiple associations of Klippel-Feil syndrome. Acta Neurol Belg. ePub, 2014
                                              3. Dornbos D 3rd et al: Vertebral artery dissection after neck extension in an adult patient with Klippel-Feil syndrome. J Clin Neurosci. 21(4):685-8, 2014
                                              4. McLaughlin N et al: Klippel-Feil syndrome associated with a craniocervico-thoracic dermoid cyst. Surg Neurol Int. 4(Suppl 2):S61-6, 2013
                                              5. Ogihara N et al: Surgical treatment of Klippel-Feil syndrome with basilar invagination. Eur Spine J. 22 Suppl 3:S380-7, 2013
                                              6. Kumar D et al: Klippel-Feil syndrome with unilateral renal agenesis and renal failure. J Assoc Physicians India. 60:68-9, 2012
                                              7. Apaydin M et al: Partial posterior split cervical spinal cord with Klippel-Feil syndrome. JBR-BTR. 93(1):30, 2010
                                              8. Samartzis D et al: Atlantoaxial rotatory fixation in the setting of associated congenital malformations: a modified classification system. Spine (Phila Pa 1976). 35(4):E119-27, 2010
                                              9. Samartzis D et al: 2008 Young Investigator Award: The role of congenitally fused cervical segments upon the space available for the cord and associated symptoms in Klippel-Feil patients. Spine (Phila Pa 1976). 33(13):1442-50, 2008
                                              10. Samartzis D et al: The extent of fusion within the congenital Klippel-Feil segment. Spine (Phila Pa 1976). 33(15):1637-42, 2008
                                              11. Smoker WR et al: Imaging the craniocervical junction. Childs Nerv Syst. 24(10):1123-45, 2008
                                              12. Yildirim N et al: Klippel-Feil syndrome and associated ear anomalies. Am J Otolaryngol. 29(5):319-25, 2008
                                              13. Samartzis D et al: Sprengel's deformity in Klippel-Feil syndrome. Spine (Phila Pa 1976). 32(18):E512-6, 2007
                                              14. Samartzis DD et al: Classification of congenitally fused cervical patterns in Klippel-Feil patients: epidemiology and role in the development of cervical spine-related symptoms. Spine (Phila Pa 1976). 31(21):E798-804, 2006
                                              15. Schaffer AA et al: Developmental anomalies of the cervical spine in patients with fibrodysplasia ossificans progressiva are distinctly different from those in patients with Klippel-Feil syndrome: clues from the BMP signaling pathway. Spine (Phila Pa 1976). 30(12):1379-85, 2005
                                              16. Tracy MR et al: Klippel-Feil syndrome: clinical features and current understanding of etiology. Clin Orthop Relat Res. (424):183-90, 2004
                                              17. Royal SA et al: Investigations into the association between cervicomedullary neuroschisis and mirror movements in patients with Klippel-Feil syndrome. AJNR Am J Neuroradiol. 23(4):724-9, 2002
                                              18. Andronikou S et al: Klippel-Feil syndrome with cervical diastematomyelia in an 8-year-old boy. Pediatr Radiol. 31(9):636, 2001
                                              19. Nagashima H et al: No neurological involvement for more than 40 years in Klippel-Feil syndrome with severe hypermobility of the upper cervical spine. Arch Orthop Trauma Surg. 121(1-2):99-101, 2001
                                              20. David KM et al: The dysmorphic cervical spine in Klippel-Feil syndrome: interpretations from developmental biology. Neurosurg Focus. 6(6):e1, 1999
                                              21. Clark et al: The Cervical Spine. 3rd ed. Philadelphia, Lippincott-Raven. 339-348, 1998
                                              22. Clarke RA et al: Heterogeneity in Klippel-Feil syndrome: a new classification. Pediatr Radiol. 28(12):967-74, 1998
                                              23. Karasick D et al: The traumatized cervical spine in Klippel-Feil syndrome: imaging features. AJR Am J Roentgenol. 170(1):85-8, 1998
                                              24. Rouvreau P et al: Assessment and neurologic involvement of patients with cervical spine congenital synostosis as in Klippel-Feil syndrome: study of 19 cases. J Pediatr Orthop B. 7(3):179-85, 1998
                                              25. Theiss SM et al: The long-term follow-up of patients with Klippel-Feil syndrome and congenital scoliosis. Spine. 22(11):1219-22, 1997
                                              26. Thomsen MN et al: Scoliosis and congenital anomalies associated with Klippel-Feil syndrome types I-III. Spine. 22(4):396-401, 1997
                                              27. David KM et al: Split cervical spinal cord with Klippel-Feil syndrome: seven cases. Brain. 119 ( Pt 6):1859-72, 1996
                                              28. Baba H et al: The cervical spine in the Klippel-Feil syndrome. A report of 57 cases. Int Orthop. 19(4):204-8, 1995
                                              29. Guggenbuhl P et al: Adult-onset Klippel-Feil syndrome with inaugural neurologic symptoms: two case reports. Rev Rhum Engl Ed. 62(11):802-4, 1995
                                              30. Guille JT et al: The natural history of Klippel-Feil syndrome: clinical, roentgenographic, and magnetic resonance imaging findings at adulthood. J Pediatr Orthop. 15(5):617-26, 1995
                                              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

                                                          • Synonyms

                                                            • Klippel-Feil syndrome (KFS)
                                                          • Definitions

                                                            • Congenital spinal malformation characterized by segmentation failure of ≥ 2 cervical vertebrae ± thoracic, lumbar segmentation failure

                                                          IMAGING

                                                          • General Features

                                                            • Radiographic Findings

                                                              • CT Findings

                                                                • MR Findings

                                                                  • 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. Al-Tamimi YZ et al: Fracture through fused cervical segments following trauma in a patient with Klippel-Feil syndrome. Br J Neurosurg. 28(3):408-10, 2014
                                                                                          2. Jasper A et al: The multiple associations of Klippel-Feil syndrome. Acta Neurol Belg. ePub, 2014
                                                                                          3. Dornbos D 3rd et al: Vertebral artery dissection after neck extension in an adult patient with Klippel-Feil syndrome. J Clin Neurosci. 21(4):685-8, 2014
                                                                                          4. McLaughlin N et al: Klippel-Feil syndrome associated with a craniocervico-thoracic dermoid cyst. Surg Neurol Int. 4(Suppl 2):S61-6, 2013
                                                                                          5. Ogihara N et al: Surgical treatment of Klippel-Feil syndrome with basilar invagination. Eur Spine J. 22 Suppl 3:S380-7, 2013
                                                                                          6. Kumar D et al: Klippel-Feil syndrome with unilateral renal agenesis and renal failure. J Assoc Physicians India. 60:68-9, 2012
                                                                                          7. Apaydin M et al: Partial posterior split cervical spinal cord with Klippel-Feil syndrome. JBR-BTR. 93(1):30, 2010
                                                                                          8. Samartzis D et al: Atlantoaxial rotatory fixation in the setting of associated congenital malformations: a modified classification system. Spine (Phila Pa 1976). 35(4):E119-27, 2010
                                                                                          9. Samartzis D et al: 2008 Young Investigator Award: The role of congenitally fused cervical segments upon the space available for the cord and associated symptoms in Klippel-Feil patients. Spine (Phila Pa 1976). 33(13):1442-50, 2008
                                                                                          10. Samartzis D et al: The extent of fusion within the congenital Klippel-Feil segment. Spine (Phila Pa 1976). 33(15):1637-42, 2008
                                                                                          11. Smoker WR et al: Imaging the craniocervical junction. Childs Nerv Syst. 24(10):1123-45, 2008
                                                                                          12. Yildirim N et al: Klippel-Feil syndrome and associated ear anomalies. Am J Otolaryngol. 29(5):319-25, 2008
                                                                                          13. Samartzis D et al: Sprengel's deformity in Klippel-Feil syndrome. Spine (Phila Pa 1976). 32(18):E512-6, 2007
                                                                                          14. Samartzis DD et al: Classification of congenitally fused cervical patterns in Klippel-Feil patients: epidemiology and role in the development of cervical spine-related symptoms. Spine (Phila Pa 1976). 31(21):E798-804, 2006
                                                                                          15. Schaffer AA et al: Developmental anomalies of the cervical spine in patients with fibrodysplasia ossificans progressiva are distinctly different from those in patients with Klippel-Feil syndrome: clues from the BMP signaling pathway. Spine (Phila Pa 1976). 30(12):1379-85, 2005
                                                                                          16. Tracy MR et al: Klippel-Feil syndrome: clinical features and current understanding of etiology. Clin Orthop Relat Res. (424):183-90, 2004
                                                                                          17. Royal SA et al: Investigations into the association between cervicomedullary neuroschisis and mirror movements in patients with Klippel-Feil syndrome. AJNR Am J Neuroradiol. 23(4):724-9, 2002
                                                                                          18. Andronikou S et al: Klippel-Feil syndrome with cervical diastematomyelia in an 8-year-old boy. Pediatr Radiol. 31(9):636, 2001
                                                                                          19. Nagashima H et al: No neurological involvement for more than 40 years in Klippel-Feil syndrome with severe hypermobility of the upper cervical spine. Arch Orthop Trauma Surg. 121(1-2):99-101, 2001
                                                                                          20. David KM et al: The dysmorphic cervical spine in Klippel-Feil syndrome: interpretations from developmental biology. Neurosurg Focus. 6(6):e1, 1999
                                                                                          21. Clark et al: The Cervical Spine. 3rd ed. Philadelphia, Lippincott-Raven. 339-348, 1998
                                                                                          22. Clarke RA et al: Heterogeneity in Klippel-Feil syndrome: a new classification. Pediatr Radiol. 28(12):967-74, 1998
                                                                                          23. Karasick D et al: The traumatized cervical spine in Klippel-Feil syndrome: imaging features. AJR Am J Roentgenol. 170(1):85-8, 1998
                                                                                          24. Rouvreau P et al: Assessment and neurologic involvement of patients with cervical spine congenital synostosis as in Klippel-Feil syndrome: study of 19 cases. J Pediatr Orthop B. 7(3):179-85, 1998
                                                                                          25. Theiss SM et al: The long-term follow-up of patients with Klippel-Feil syndrome and congenital scoliosis. Spine. 22(11):1219-22, 1997
                                                                                          26. Thomsen MN et al: Scoliosis and congenital anomalies associated with Klippel-Feil syndrome types I-III. Spine. 22(4):396-401, 1997
                                                                                          27. David KM et al: Split cervical spinal cord with Klippel-Feil syndrome: seven cases. Brain. 119 ( Pt 6):1859-72, 1996
                                                                                          28. Baba H et al: The cervical spine in the Klippel-Feil syndrome. A report of 57 cases. Int Orthop. 19(4):204-8, 1995
                                                                                          29. Guggenbuhl P et al: Adult-onset Klippel-Feil syndrome with inaugural neurologic symptoms: two case reports. Rev Rhum Engl Ed. 62(11):802-4, 1995
                                                                                          30. Guille JT et al: The natural history of Klippel-Feil syndrome: clinical, roentgenographic, and magnetic resonance imaging findings at adulthood. J Pediatr Orthop. 15(5):617-26, 1995