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Review Article: Chiari Type I Malformation with or Without Syringomyelia: Prevalence and Genetics

Journal of Genetic Counseling

Abstract

Chiari type I malformation has traditionally been defined as a downward herniation of the cerebellar tonsils of ≥5 mm through the foramen magnum and it is likely associated with a volumetrically reduced posterior fossa. Syringomyelia is commonly associated with Chiari type I malformation. We estimate the prevalence of these two conditions and determine that they are more common than previously expected. We identify the genetic syndromes associated with some cases of Chiari type I malformation, and we provide evidence in favor of a genetic hypothesis for at least a subset of the nonsyndromic cases.

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Speer, M.C., Enterline, D.S., Mehltretter, L. et al. Review Article: Chiari Type I Malformation with or Without Syringomyelia: Prevalence and Genetics. Journal of Genetic Counseling 12, 297–311 (2003). https://doi.org/10.1023/A:1023948921381

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