Question
A 25 year old woman presents with neck stiffness after a minor fall. Her CT scan is shown.
- What is the underlying diagnosis?
- What are the physical examination features of this condition?
- What are the radiological features and associated conditions?
Answer
Diagnosis
- Klippel-Feil syndrome, congenital fusion of cervical vertebrae, here at C2 to C3 with fusion of the posterior elements
- Failure of segmentation of the cervical somites in weeks 3 to 8 of gestation
Examination features
- Classic triad of short neck, low posterior hairline and reduced neck motion, present in fewer than half
- Torticollis and facial asymmetry
- Sprengel deformity (undescended scapula) with an omovertebral bar
- Synkinesia (mirror movements) of the hands
- Neurological examination for myelopathy or radiculopathy
Radiological features
- Fused vertebral bodies with a narrow waist (wasp waist sign) and absent or rudimentary disc
- Fused facets and spinous processes
- Flexion and extension views for hypermobility at adjacent unfused levels
- MRI for stenosis, disc degeneration and Chiari malformation
Associated conditions
- Congenital scoliosis
- Renal anomalies in about a third, needing renal ultrasound
- Cardiac defects and deafness
- Patients with long or upper cervical fusions are counselled about contact sport because of adjacent segment instability
Related pages
Author Contributions
Orthofracs team
Reviewed by Professor Phong Tran, Head of Orthopaedic Surgery, Western Health. Last updated 10 October 2026.