KLIPPEL-FIEL SYNDROME
- Mobile atlantoaxial dislocation.
- Block vertebra at C2-C3 , segmentation anomalies in the upper thoracic spine.
- High riding scapula
In 1912, Maurice Klippel and Andre Feil were independently the first to describe Klippel-Feil syndrome. They described patients who had a short neck, increased range of motion (ROM) in the cervical spine, and a low hairline. Feil subsequently classified the syndrome into 3 categories. Type I is described as a massive fusion of the cervical spine. Type II is present when the fusion of 1 or 2 vertebrae occurs. Type III occurs when thoracic and lumbar spine anomalies are associated with type I or type II Klippel-Feil syndrome.
- fused vertebrae
- esp. cervical spine (C3-C4)
- elevation of scapula (Sprengel deformity)
- omocervical bones
- GU abnormalities (66%)
- renal agenesis (33%)
- deafness (33%)