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  • Title: Craniocervical CT and MR imaging of Schwartz-Jampel syndrome.
    Author: Samimi SS, Lesley WS.
    Journal: AJNR Am J Neuroradiol; 2003 Sep; 24(8):1694-6. PubMed ID: 13679294.
    Abstract:
    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.
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