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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
- Gruber J et al: The prevalence of Klippel-Feil syndrome: a computed tomography-based analysis of 2,917 patients. Spine Deform. 6(4):448-53, 2018
- Stelzer JW et al: Klippel-Feil syndrome with Sprengel deformity and extensive upper extremity deformity: a case report and literature review. Case Rep Orthop. 2018:5796730, 2018
- Saker E et al: The intriguing history of vertebral fusion anomalies: the Klippel-Feil syndrome. Childs Nerv Syst. 32(9):1599-602, 2016
- 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
- Jasper A et al: The multiple associations of Klippel-Feil syndrome. Acta Neurol Belg. 115(2):157-9, 2014
- 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
- McLaughlin N et al: Klippel-Feil syndrome associated with a craniocervico-thoracic dermoid cyst. Surg Neurol Int. 4(Suppl 2):S61-6, 2013
- Ogihara N et al: Surgical treatment of Klippel-Feil syndrome with basilar invagination. Eur Spine J. 22 Suppl 3:S380-7, 2013
- Kumar D et al: Klippel-Feil syndrome with unilateral renal agenesis and renal failure. J Assoc Physicians India. 60:68-9, 2012
- Apaydin M et al: Partial posterior split cervical spinal cord with Klippel-Feil syndrome. JBR-BTR. 93(1):30, 2010
- 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
- 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
- Samartzis D et al: The extent of fusion within the congenital Klippel-Feil segment. Spine (Phila Pa 1976). 33(15):1637-42, 2008
- Smoker WR et al: Imaging the craniocervical junction. Childs Nerv Syst. 24(10):1123-45, 2008
- Yildirim N et al: Klippel-Feil syndrome and associated ear anomalies. Am J Otolaryngol. 29(5):319-25, 2008
- Samartzis D et al: Sprengel's deformity in Klippel-Feil syndrome. Spine (Phila Pa 1976). 32(18):E512-6, 2007
- 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
- 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
- Tracy MR et al: Klippel-Feil syndrome: clinical features and current understanding of etiology. Clin Orthop Relat Res. (424):183-90, 2004
- 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
- Andronikou S et al: Klippel-Feil syndrome with cervical diastematomyelia in an 8-year-old boy. Pediatr Radiol. 31(9):636, 2001
- 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
- David KM et al: The dysmorphic cervical spine in Klippel-Feil syndrome: interpretations from developmental biology. Neurosurg Focus. 6(6):e1, 1999
- Clark et al: The Cervical Spine. 3rd ed. Philadelphia, Lippincott-Raven. 339-348, 1998
- Clarke RA et al: Heterogeneity in Klippel-Feil syndrome: a new classification. Pediatr Radiol. 28(12):967-74, 1998
- Karasick D et al: The traumatized cervical spine in Klippel-Feil syndrome: imaging features. AJR Am J Roentgenol. 170(1):85-8, 1998
- 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
- Theiss SM et al: The long-term follow-up of patients with Klippel-Feil syndrome and congenital scoliosis. Spine. 22(11):1219-22, 1997
- Thomsen MN et al: Scoliosis and congenital anomalies associated with Klippel-Feil syndrome types I-III. Spine. 22(4):396-401, 1997
- David KM et al: Split cervical spinal cord with Klippel-Feil syndrome: seven cases. Brain. 119 ( Pt 6):1859-72, 1996
- Baba H et al: The cervical spine in the Klippel-Feil syndrome. A report of 57 cases. Int Orthop. 19(4):204-8, 1995
- 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
- 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
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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
- Gruber J et al: The prevalence of Klippel-Feil syndrome: a computed tomography-based analysis of 2,917 patients. Spine Deform. 6(4):448-53, 2018
- Stelzer JW et al: Klippel-Feil syndrome with Sprengel deformity and extensive upper extremity deformity: a case report and literature review. Case Rep Orthop. 2018:5796730, 2018
- Saker E et al: The intriguing history of vertebral fusion anomalies: the Klippel-Feil syndrome. Childs Nerv Syst. 32(9):1599-602, 2016
- 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
- Jasper A et al: The multiple associations of Klippel-Feil syndrome. Acta Neurol Belg. 115(2):157-9, 2014
- 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
- McLaughlin N et al: Klippel-Feil syndrome associated with a craniocervico-thoracic dermoid cyst. Surg Neurol Int. 4(Suppl 2):S61-6, 2013
- Ogihara N et al: Surgical treatment of Klippel-Feil syndrome with basilar invagination. Eur Spine J. 22 Suppl 3:S380-7, 2013
- Kumar D et al: Klippel-Feil syndrome with unilateral renal agenesis and renal failure. J Assoc Physicians India. 60:68-9, 2012
- Apaydin M et al: Partial posterior split cervical spinal cord with Klippel-Feil syndrome. JBR-BTR. 93(1):30, 2010
- 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
- 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
- Samartzis D et al: The extent of fusion within the congenital Klippel-Feil segment. Spine (Phila Pa 1976). 33(15):1637-42, 2008
- Smoker WR et al: Imaging the craniocervical junction. Childs Nerv Syst. 24(10):1123-45, 2008
- Yildirim N et al: Klippel-Feil syndrome and associated ear anomalies. Am J Otolaryngol. 29(5):319-25, 2008
- Samartzis D et al: Sprengel's deformity in Klippel-Feil syndrome. Spine (Phila Pa 1976). 32(18):E512-6, 2007
- 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
- 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
- Tracy MR et al: Klippel-Feil syndrome: clinical features and current understanding of etiology. Clin Orthop Relat Res. (424):183-90, 2004
- 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
- Andronikou S et al: Klippel-Feil syndrome with cervical diastematomyelia in an 8-year-old boy. Pediatr Radiol. 31(9):636, 2001
- 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
- David KM et al: The dysmorphic cervical spine in Klippel-Feil syndrome: interpretations from developmental biology. Neurosurg Focus. 6(6):e1, 1999
- Clark et al: The Cervical Spine. 3rd ed. Philadelphia, Lippincott-Raven. 339-348, 1998
- Clarke RA et al: Heterogeneity in Klippel-Feil syndrome: a new classification. Pediatr Radiol. 28(12):967-74, 1998
- Karasick D et al: The traumatized cervical spine in Klippel-Feil syndrome: imaging features. AJR Am J Roentgenol. 170(1):85-8, 1998
- 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
- Theiss SM et al: The long-term follow-up of patients with Klippel-Feil syndrome and congenital scoliosis. Spine. 22(11):1219-22, 1997
- Thomsen MN et al: Scoliosis and congenital anomalies associated with Klippel-Feil syndrome types I-III. Spine. 22(4):396-401, 1997
- David KM et al: Split cervical spinal cord with Klippel-Feil syndrome: seven cases. Brain. 119 ( Pt 6):1859-72, 1996
- Baba H et al: The cervical spine in the Klippel-Feil syndrome. A report of 57 cases. Int Orthop. 19(4):204-8, 1995
- 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
- 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
