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Klippel Feil Syndrome

- History:
   -Maurice Klippel and Andre Feil first to describe syndrome in 1912
   -Characterized by patients with:
             Short neck
             Low hairline
             Decreased cervical motion
   -Fewer than 50% with congenital defects of cervical spine have all three signs

- Discussion:
    - involves congenital failure of segmentation of cervical vertebrae;
    - results from failure of normal segmentation of cervical somites at 3-8 weeks's gestation;
          - result is multiple fused cervical segments;
    - spectrum of deformity from fusion of 2 vertebrae to involvement of entire C- spine;
           - fusion of C-2 & C-3 is most common;
    - familial Klippel-Feil-syndrome gene locus on the long arm of chromosome 8;


    - associated conditions:
          - consistently associated with congenital anomalies of other systems;
          - congenital scoliosis;
                 - seen in 60%;
                 - majority require treatment;
          - Sprengel's deformity; (33%)
                  Failure of scapula decent
                  Attached to cervical spine by omovertebral bone or fibrous band

          - renal dz:
                 - occurs in 33%
                 - aplasia is common;
                 - renal ultrasound in indicated;
          - synkinesis (mirror motions);
          - congenital heart dz;
          - brain stem abnormalities;
          - congenital cervical stenosis;
          - syndactyly and hypoplastic thumb;
          - hearing loss: may occur in 30% of patients;
                 - ref: Klippel-Feil syndrome and deafness. A study with polytomography
    - diff dx:
          - juvenile rheumatoid arthritis;
          - rheumatoid spondylitis;

- Clinical Presentation:
    -Often incidental finding
    -Anomalies present at birth
    -Diagnosed at later age
           Abnormal head position
           Restricted Cervical ROM
           Patients with extensive fusions present earlier
           Cosmetic deformity
           Instability/Hypermobility at unfused levels
           Cord compression in congenitally anomolous, narrow canal in young adults

    -Arnold Chiari Malformation
   -CNS involvement
           Difficulty swallowing
           Disturbed phonation
           Blurred vision
   -Vertebral artery involvement
           Syncope, Seizures, Ataxia

- Clinical Findings:
    - low posterior hairline;
    - short neck;
    - limited neck range of motion (esp lateral side bending);
    - scoliosis:
          60% with curve >15°
          Congenital or compensatory

          Winter, et al. (1984) reported 25% incidence of KFS in 1215 patients with congenital scoliosis

- Classification:

    Type I: Massive fusion of cervical spine
    Type II: Fusion of one or two cervical interspaces
    Type III: Thoracic or Lumbar vertebrae involved

- Evaluation:

    -C-spine series with flexion and extension
    -Location & number of fused segments
    -75% occur in C1-C3; C2/3 most common
    -50% involve ≤ 3 Vertebrae
    -Interspinous distance on flex-ex
    -Translational instability
    -Hemivertebrae/block vertebrae
    -T&L spine imaging
    -CT scan  
         Valuable tool to assess the bony anatomy
         Helpful in pre-operative planning
         Obtain reconstructions
         Identifies spinal cord abnormalities
         Flexion and extension MRI to identify cord compression or stenosis
            Ritterbusch et al.
                    25% with 5 mm or more of C1-C2 subluxation
                    25% with stenosis/12% had cord abnormalities

- Natural History: Pizzutillo, et al. (1994)
    -Evaluated flex-ext radiographs to determine
    -Alterations from normal motion
    -Potential neurologic risk
             If hypermobility of upper cervical segment, greatest risk of neurologic sequelae.
             If hypermobility of lower cervical segment, greatest risk of degenerative changes.

- Treatment:
      If asymptomatic & no evidence of instability:
       -Periodic flex-ex radiographs
       -Avoidance of contact sports
       -Avoidance of occupations and recreational activities with risk of head trauma

      Sports Participation:

             Type I
                  Absolute contraindication to participation in contact sports

             Type II
                  Absolute contraindication
                      Fusion of one or two interspaces with:
                          -Associated limited motion
                          -Occipitocervical anomalies
                          -Involvement of C2
                          -Disc disease
                          -Degenerative changes

                  No contraindication
                     Fusion of one or two interspaces at C3 or below with:
                          -Full cervical ROM
                          - Absence of above

    Symptomatic Treatment:
            -Modification of activities
            -Reduce symptoms
            -Delay surgery
            -Prevent neurologic compromise after minor trauma

Surgical intervention considered for:
            -Progressive symptomatic segmental instability
            -Neurologic compromise

            -Occipitocervical arthrodesis
            -Halo immobilization
            -Atlantoaxial arthrodesis

The incidence of Klippel-Feil syndrome in patients with congenital scoliosis and kyphosis

Risk factors in Klippel-Feil syndrome.

Klippel-Feil syndrome. A constellation of the associated anomalies

Klippel-Feil Syndrome: Clinical Features and Current Understanding of Etiology.

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