Klippel-Feil syndrome

Case contributed by Mohammad A. ElBeialy
Diagnosis almost certain

Presentation

Neck pain and headache.

Patient Data

Age: 60 years
Gender: Female
x-ray

Fusion of C2, C3 and C4 vertebral bodies, suggestive of type II Klippel-Feil syndrome (full spinal imaging is required to confirm the type). 

In addition to AP diameter at the level of the affected discovertebral joint is smaller than the diameter at the superior and inferior limits of the vertebrae adjacent to the uninvolved discs, which is called the wasp-waist sign.

Case Discussion

On examination, the patient also had a limited range of motion and a relatively short neck, which is consistent with Klippel-Feil syndrome

Klippel-Feil syndrome is classified into three types 1:

  • type I - many cervical and upper thoracic vertebrae are fused
  • type II -  fusion of one or two cervical vertebrae with upper thoracic vertebral fusion
  • type III - cervical vertebral fusion with lower thoracic or lumbar vertebral fusion

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