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


Journal Article

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.

Full Text

Duke Authors

Cited Authors

  • Speer, MC; Enterline, DS; Mehltretter, L; Hammock, P; Joseph, J; Dickerson, M; Ellenbogen, RG; Milhorat, TH; Hauser, MA; George, TM

Published Date

  • August 2003

Published In

Volume / Issue

  • 12 / 4

Start / End Page

  • 297 - 311

PubMed ID

  • 26141174

Pubmed Central ID

  • 26141174

International Standard Serial Number (ISSN)

  • 1059-7700

Digital Object Identifier (DOI)

  • 10.1023/A:1023948921381


  • eng

Conference Location

  • United States