Two-year-old girl with cervicomedullary junction stenosis and an unknown type of skeletal dysplasia.

The authors present a novel case of skeletal dysplasia in a 2.8-year-old girl. The patient presented with progressive lower cranial nerve palsy and myelopathy due to constriction at the cervicomedullary junction caused by overgrowth of the occipital bone of the foramen magnum and the C-1. She also had prominent bone overgrowth of the superior orbital ridges, resulting in excessive stretching of periorbital skin and an inability to fully close her eyes.