Chiari in the Family: Inheritance of the Chiari I Malformation

Aimee J. Szewka, Larry Walsh, Joel C. Boaz, Karen S. Carvalho, Meredith Golomb

Research output: Contribution to journalArticle

25 Citations (Scopus)

Abstract

This report presents three families with Chiari malformation type I that became symptomatic during childhood: a mother and son; a set of monozygotic twins; and two half-siblings and their two maternal cousins. These children presented with various symptoms, including headache, stiff neck, and swallowing difficulty. A review of the relevant literature is presented, with an emphasis on familial examples and proposed inheritance. Less common presentations of Chiari malformation type I are discussed, as well as the possible pathogenesis of Chiari malformation type I and associated syringomyelia.

Original languageEnglish
Pages (from-to)481-485
Number of pages5
JournalPediatric Neurology
Volume34
Issue number6
DOIs
StatePublished - Jun 2006

Fingerprint

Arnold-Chiari Malformation
Mothers
Syringomyelia
Monozygotic Twins
Deglutition
Nuclear Family
Headache
Siblings
Neck

ASJC Scopus subject areas

  • Clinical Neurology
  • Pediatrics, Perinatology, and Child Health
  • Developmental Neuroscience
  • Neurology

Cite this

Chiari in the Family : Inheritance of the Chiari I Malformation. / Szewka, Aimee J.; Walsh, Larry; Boaz, Joel C.; Carvalho, Karen S.; Golomb, Meredith.

In: Pediatric Neurology, Vol. 34, No. 6, 06.2006, p. 481-485.

Research output: Contribution to journalArticle

Szewka, Aimee J. ; Walsh, Larry ; Boaz, Joel C. ; Carvalho, Karen S. ; Golomb, Meredith. / Chiari in the Family : Inheritance of the Chiari I Malformation. In: Pediatric Neurology. 2006 ; Vol. 34, No. 6. pp. 481-485.
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