title: Two-year-old girl with cervicomedullary junction stenosis and an unknown type of skeletal dysplasia.
abstract: 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.
authors.affiliation: Howard Hughes Medical Institute and Stanford Institute for Stem Cell Biology and Regenerative Medicine, Stanford University School of Medicine, 300 Pasteur Drive, Stanford, CA 94505, USA. sam@samuelcheshier.com
authors.forename: Samuel Henry
authors.initials: SH
authors.lastname: Cheshier
authors.forename: Mohammad Yashar Sorena
authors.initials: MY
authors.lastname: Kalani
authors.forename: Arjun
authors.initials: A
authors.lastname: Pendakaur
authors.forename: Dominique
authors.initials: D
authors.lastname: Higgins
authors.forename: David
authors.initials: D
authors.lastname: Kahn
authors.forename: Stephen
authors.initials: S
authors.lastname: Shendel
authors.forename: Lawrence
authors.initials: L
authors.lastname: Shuer