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

Publication ,  Journal Article
Speer, MC; Enterline, DS; Mehltretter, L; Hammock, P; Joseph, J; Dickerson, M; Ellenbogen, RG; Milhorat, TH; Hauser, MA; George, TM
Published in: J Genet Couns
August 2003

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.

Duke Scholars

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Published In

J Genet Couns

DOI

ISSN

1059-7700

Publication Date

August 2003

Volume

12

Issue

4

Start / End Page

297 / 311

Location

United States

Related Subject Headings

  • Genetics & Heredity
  • 3202 Clinical sciences
  • 1103 Clinical Sciences
 

Citation

APA
Chicago
ICMJE
MLA
NLM
Speer, M. C., Enterline, D. S., Mehltretter, L., Hammock, P., Joseph, J., Dickerson, M., … George, T. M. (2003). Review Article: Chiari Type I Malformation with or Without Syringomyelia: Prevalence and Genetics. J Genet Couns, 12(4), 297–311. https://doi.org/10.1023/A:1023948921381
Speer, Marcy C., David S. Enterline, Lorraine Mehltretter, Preston Hammock, Judith Joseph, Margaret Dickerson, Richard G. Ellenbogen, Thomas H. Milhorat, Michael A. Hauser, and Timothy M. George. “Review Article: Chiari Type I Malformation with or Without Syringomyelia: Prevalence and Genetics.J Genet Couns 12, no. 4 (August 2003): 297–311. https://doi.org/10.1023/A:1023948921381.
Speer MC, Enterline DS, Mehltretter L, Hammock P, Joseph J, Dickerson M, et al. Review Article: Chiari Type I Malformation with or Without Syringomyelia: Prevalence and Genetics. J Genet Couns. 2003 Aug;12(4):297–311.
Speer, Marcy C., et al. “Review Article: Chiari Type I Malformation with or Without Syringomyelia: Prevalence and Genetics.J Genet Couns, vol. 12, no. 4, Aug. 2003, pp. 297–311. Pubmed, doi:10.1023/A:1023948921381.
Speer MC, Enterline DS, Mehltretter L, Hammock P, Joseph J, Dickerson M, Ellenbogen RG, Milhorat TH, Hauser MA, George TM. Review Article: Chiari Type I Malformation with or Without Syringomyelia: Prevalence and Genetics. J Genet Couns. 2003 Aug;12(4):297–311.
Journal cover image

Published In

J Genet Couns

DOI

ISSN

1059-7700

Publication Date

August 2003

Volume

12

Issue

4

Start / End Page

297 / 311

Location

United States

Related Subject Headings

  • Genetics & Heredity
  • 3202 Clinical sciences
  • 1103 Clinical Sciences