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American Journal of Neuroradiology 24:1694-1696, September 2003
© 2003 American Society of Neuroradiology

Case Report
PEDIATRICS

Craniocervical CT and MR Imaging of Schwartz-Jampel Syndrome

Sarah S. Samimia and Walter S. Lesleya

a From the Saint Louis University School of Medicine, Cardinal Glennon Children’s Hospital, St. Louis, MO

Address reprint requests to Walter S. Lesley, MD, Saint Louis University Hospital, 2nd Floor, Departments of Radiology and Surgery, Sections of Endovascular Neurosurgery and Surgical Neuroradiology, 3635 Vista Avenue, St. Louis, MO 63110

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.






Copyright © 2010 by the American Society of Neuroradiology. Print ISSN: 0195-6108 Online ISSN: 1936-959X