Craniocervical CT and MR Imaging of Schwartz-Jampel Syndrome

Abstract

Summary: Schwartz-Jampel syndrome is a rare, inherited disorder characterized by myotonia, skeletal deformities, facial dysmorphism, and growth retardation. In this report of an adolescent male patient with Schwartz-Jampel syndrome, CT and MR imaging revealed basilar invagination, platybasia, Chiari I malformation, hyperpneumatized mastoids with intramastoid dural sinuses, platyspondyly, bulbous zygoma, and blunted pterygoid processes.