Arnold-Chiari malformation causes

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Arnold-Chiari malformation Microchapters

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Fahimeh Shojaei, M.D.

Overview

The cause of Arnold Chiari malformation has not been identified. To review risk factors for the development of [disease name], click here.

Causes

Common Causes

Common causes of [disease name] may include:[1][2][3]

Less Common Causes

Less common causes of [disease name] include:

  • Vitamin D-resistant rickets

Genetic Causes

Arnold Chiari malformation is caused by a mutation in following genes:[4]

  • PAX1
  • PAX2
  • PAX3
  • PAX6
  • FGF2
  • TBX6
  • HOX gene
  • Noggin gene
  • EFNB1

References

  1. Kuether, Todd A.; Piatt, Joseph H. (1998). "Chiari Malformation Associated with Vitamin D-resistant Rickets: Case Report". Neurosurgery. 42 (5): 1168–1171. doi:10.1097/00006123-199805000-00134. ISSN 0148-396X.
  2. Cinalli, Giuseppe; Spennato, Pietro; Sainte-Rose, Christian; Arnaud, Eric; Aliberti, Ferdinando; Brunelle, Francis; Cianciulli, Emilio; Renier, Dominique (2005). "Chiari malformation in craniosynostosis". Child's Nervous System. 21 (10): 889–901. doi:10.1007/s00381-004-1115-z. ISSN 0256-7040.
  3. Dlouhy, Brian J.; Menezes, Arnold H. (2011). "Osteopetrosis with Chiari I malformation: presentation and surgical management". Journal of Neurosurgery: Pediatrics. 7 (4): 369–374. doi:10.3171/2011.1.PEDS10353. ISSN 1933-0707.
  4. Schanker, Benjamin D.; Walcott, Brian P.; Nahed, Brian V.; Kahle, Kristopher T.; Li, Yan Michael; Coumans, Jean-Valery C. E. (2011). "Familial Chiari malformation: case series". Neurosurgical Focus. 31 (3): E1. doi:10.3171/2011.6.FOCUS11104. ISSN 1092-0684.


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