Chiari in the Family: Inheritance of the Chiari I Malformation

Aimee J. Szewka, Laurence E. Walsh, Joel C. Boaz, Karen S. Carvalho, Meredith R. Golomb

Research output: Contribution to journalArticle

25 Scopus citations

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 (US)
Pages (from-to)481-485
Number of pages5
JournalPediatric Neurology
Volume34
Issue number6
DOIs
StatePublished - Jun 1 2006

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ASJC Scopus subject areas

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

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