Definition
Improper segmentation or congenital fusion of at least one vertebral motion segment of the cervical spine
Epidemiology
1/50,000
More common in females
Etiology
Some familial inheritance / AD / AR / variable penetrance
Clinical
Classic triad (50% patients)
- stiff neck
- short neck
- low posterior hairline
Torticollis
Multiple associated issues
Other congenital cervical spine abnormality - occiptiocervical synostosis / basilar invagination
Scoliosis
Sprengel's deformity
Deafness
Cardiovascular abnormalities
Renal abnormalities
Difficulty with intubation
Xray
Vertebral fusions over single or multiple levels
C2/3 most common
Classification
Type I: single fused segment
Type II: multiple, non continuous fused segments
Type III: multiple continuous fused segments
CT scan
Multiple deformities
- vertebral body fusions / block vertebrae
- hemivertebrae
- cervical spina bifida
Management
Cervical spine
Risk traumatic spinal cord injury / avoid contact sports
Surgical indications
Neurology / radiculopathy / myelopathy
- 718 patients with Klippel-Feil
- 19% underwent surgery
- most commonly instability / deformity