Ellis-van Creveld (EVC) syndrome is an autosominal recessive syndrome with features of chondroectodermal dysplasia. Involvement of craniovertebral (CV) junction in association with this syndrome is extremely rare. We present a case of 9-year-old boy who presented with myelopathy and the management options related to this anomaly. The atlanto axial instability was reducible in radiological examination so posterior occipito cervical fusion was performed. Considering the fact that patients with EVC syndrome may have spinal instability especially CV junction, they should also undergo a screening X-ray of the craniovertebral junction to rule out any instability.
Keywords: Atlantoaxial dislocation, Chondroectodermal dysplasia, Ellis-van creveld syndrome, Genu valgum, Polydactyly.
How to cite this article: Kesavapisharady K, Nair S. Ellis-van Creveld Syndrome associated with Atlantoaxial Dislocation. J Spinal Surg 2016;3(4):151-153.
Source of support: Nil
Conflict of interest: None