Arnold-Chiari malformation causes: Difference between revisions
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{{CMG}}; {{AE}} {{Fs}} | {{CMG}}; {{AE}} {{Fs}} | ||
==Overview== | ==Overview== | ||
The cause of Arnold Chiari malformation include craniosynostosis, osteopetrosis, vitamin D deficiency and genetic mutations. | The cause of Arnold Chiari malformation include [[craniosynostosis]], [[osteopetrosis]], [[vitamin D deficiency]] and [[genetic mutations]]. | ||
==Causes== | ==Causes== | ||
===Common Causes=== | ===Common Causes=== | ||
Common causes of | Common causes of Arnold Chiari malformation may include:<ref name="KuetherPiatt1998">{{cite journal|last1=Kuether|first1=Todd A.|last2=Piatt|first2=Joseph H.|title=Chiari Malformation Associated with Vitamin D-resistant Rickets: Case Report|journal=Neurosurgery|volume=42|issue=5|year=1998|pages=1168–1171|issn=0148-396X|doi=10.1097/00006123-199805000-00134}}</ref><ref name="CinalliSpennato2005">{{cite journal|last1=Cinalli|first1=Giuseppe|last2=Spennato|first2=Pietro|last3=Sainte-Rose|first3=Christian|last4=Arnaud|first4=Eric|last5=Aliberti|first5=Ferdinando|last6=Brunelle|first6=Francis|last7=Cianciulli|first7=Emilio|last8=Renier|first8=Dominique|title=Chiari malformation in craniosynostosis|journal=Child's Nervous System|volume=21|issue=10|year=2005|pages=889–901|issn=0256-7040|doi=10.1007/s00381-004-1115-z}}</ref><ref name="DlouhyMenezes2011">{{cite journal|last1=Dlouhy|first1=Brian J.|last2=Menezes|first2=Arnold H.|title=Osteopetrosis with Chiari I malformation: presentation and surgical management|journal=Journal of Neurosurgery: Pediatrics|volume=7|issue=4|year=2011|pages=369–374|issn=1933-0707|doi=10.3171/2011.1.PEDS10353}}</ref> | ||
*Craniosynostosis | *[[Craniosynostosis]] | ||
*[[Osteopetrosis]] | *[[Osteopetrosis]] | ||
===Less Common Causes=== | ===Less Common Causes=== | ||
Less common causes of | Less common causes of Arnold Chiari malformation include: | ||
* Vitamin D-resistant rickets | *[[Vitamin D]]-resistant [[rickets]] | ||
===Genetic Causes=== | ===Genetic Causes=== | ||
Arnold Chiari malformation is caused by a mutation in following genes:<ref name="SchankerWalcott2011">{{cite journal|last1=Schanker|first1=Benjamin D.|last2=Walcott|first2=Brian P.|last3=Nahed|first3=Brian V.|last4=Kahle|first4=Kristopher T.|last5=Li|first5=Yan Michael|last6=Coumans|first6=Jean-Valery C. E.|title=Familial Chiari malformation: case series|journal=Neurosurgical Focus|volume=31|issue=3|year=2011|pages=E1|issn=1092-0684|doi=10.3171/2011.6.FOCUS11104}}</ref> | Arnold Chiari malformation is caused by a [[mutation]] in following [[Gene|genes]]:<ref name="SchankerWalcott2011">{{cite journal|last1=Schanker|first1=Benjamin D.|last2=Walcott|first2=Brian P.|last3=Nahed|first3=Brian V.|last4=Kahle|first4=Kristopher T.|last5=Li|first5=Yan Michael|last6=Coumans|first6=Jean-Valery C. E.|title=Familial Chiari malformation: case series|journal=Neurosurgical Focus|volume=31|issue=3|year=2011|pages=E1|issn=1092-0684|doi=10.3171/2011.6.FOCUS11104}}</ref> | ||
* PAX1 | *[[PAX1]] | ||
* PAX2 | *[[PAX2]] | ||
* PAX3 | *[[PAX3]] | ||
* PAX6 | *[[PAX6]] | ||
* FGF2 | *[[FGF2]] | ||
* TBX6 | *[[TBX6]] | ||
* HOX gene | * HOX gene | ||
* Noggin gene | *[[Noggin (protein)|Noggin]] gene | ||
* EFNB1 | * EFNB1 | ||
Latest revision as of 00:28, 19 September 2019
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Arnold-Chiari malformation Microchapters |
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Differentiating Arnold-Chiari malformation from other Diseases |
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Arnold-Chiari malformation causes On the Web |
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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 include craniosynostosis, osteopetrosis, vitamin D deficiency and genetic mutations.
Causes
Common Causes
Common causes of Arnold Chiari malformation may include:[1][2][3]
Less Common Causes
Less common causes of Arnold Chiari malformation include:
Genetic Causes
Arnold Chiari malformation is caused by a mutation in following genes:[4]
References
- ↑ 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.
- ↑ 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.
- ↑ 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.
- ↑ 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.