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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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Questions (1)

(OBQ11.117) The 10-year-old boy shown in Figures A-B wishes to participate in junior football. A cervical spine CT scan is shown in Figure C. His renal evaluation shows unilateral renal aplasia and his cardiac evaluation is normal. What is his most likely diagnosis and the most appropriate corresponding medical clearance decision for playing football? Review Topic

QID: 3540
FIGURES:
1

Klippel-Feil syndrome with no participation in contact sports

84%

(2306/2744)

2

Down's syndrome with no participation in contact sports

2%

(62/2744)

3

Holt-Oram syndrome with no participation in contact sports

6%

(155/2744)

4

Down's syndrome with full participation in contact sports only following skeletal maturity

1%

(20/2744)

5

Klippel-Feil syndrome with full participation in contact sports only following skeletal maturity

7%

(189/2744)

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