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Introduction
  • Defined as multiple abnormal segments of cervical spine
    • Congenital fusion of 2 or more cervical vertebrae
  • Pathophysiology
    • due to failure of normal segmentation or formation of cervical somites at 3-8 weeks gestation
  • Genetics
    • SGM1 gene (Chr 8)
    • Notch and Pax genes
  • Associated conditions
    • congenital scoliosis 
    • Sprengel's deformity (33%) 
    • renal disease (aplasia in 33%)
    • deafness (30%)
    • congenital heart disease / cardiovascular (5-30%)
    • synkinesis (mirror motions)
    • brainstem abnormalities
    • congenital cervical stenosis 
    • basilar invagination
    • atlantoaxial instability (~50%)
    • adjacent level disease (100%)
      • degeneration of adjacent segments of cervical spine that has not fused is common due to increased stress
Classification
  • Several classifications have been proposed, none agreed upon
    • Important to note extent and locations of fusions
      • Fusions above C3, especially those with occipitalization of the atlas are most likely to be symptomatic and require abstaining from contact sports
      • Fusions below C3 are least likely to be symptomatic, and most likely to have a normal life span
Presentation
  • Symptoms
    • stiff neck
  • Physical exam
    • classic triad (seen in fewer than 50%)
      • low posterior hair line 
      • short webbed neck
      • limited cervical ROM
        • secondary to this, the condition may be confused with muscular torticollis
    • other findings
      • high scapula (Sprengel Deformity) 
      • jaw anomalies
      • partial loss of hearing
      • torticollis
      • scoliosis
Imaging
  • Imaging
    • recommended views
      • AP, lateral, and odontoid views
    • findings
      • basilar invagination
        • is seen on lateral view 
        • defined as dens elevation above McRae's line
      • atlantoaxial instability
        • is present when the atlanto dens interval is greater than 5 mm
        • cervical spinal canal stenosis is seen when spinal cord canal < 13 mm  
      • degnerative changes
        • degnerative disease of the cervical spine is seen in 100% 
      • calcifications
        • calcifications may be seen within the intervertebral space
          • resolution within 6 months is common
Treatment
  • Nonoperative
    • observation, OK to participate in contact/ collision sports
      • indications
        • asymptomatic patients with fusions of 1-2 disc spaces below C3
    • observation, abstain from contact / collision sports
      • indications
        • asymptomatic patients with fusion involving C2
          • most common presentation
        • long fusions
    • modalities
      • counseling important to avoid activities that place the neck at high risk of injury 
        • contact sports, gymnastics, football, wrestling, trampoline, etc
  • Operative
    • surgical decompression and fusion
      • indications
        • basilar invagination
        • chronic pain
        • myelopathy
        • associated atlantoaxial instability
        • adjacent level disease if symptomatic
 

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