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- Title
Chiari Type I Malformation With or Without Syringomyelia: Prevalence and Genetics.
- Authors
Speer, Marcy C.; Enterline, David S.; Mehltretter, Lorraine; Hammock, Preston; Joseph, Judith; Dickerson, Margaret; Ellenbogen, Richard G.; Milhorat, Thomas H.; Hauser, Michael A.; George, Timothy M.
- 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. KEY WORDS: Chiari type I malformation; syringomyelia; genetics; prevalence.
- Subjects
ARNOLD-Chiari deformity; BRAIN abnormalities; GENETIC disorders; BRAIN diseases; GENETICS; DISEASES
- Publication
Journal of Genetic Counseling, 2003, Vol 12, Issue 4, p297
- ISSN
1059-7700
- Publication type
Article
- DOI
10.1023/A:1023948921381