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Chiari in the Family: Inheritance of the Chiari I Malformation
Journal article   Peer reviewed

Chiari in the Family: Inheritance of the Chiari I Malformation

Aimee J. Szewka, Laurence E. Walsh, Joel C. Boaz, Karen S. Carvalho and Meredith R. Golomb
Pediatric neurology, v 34(6), pp 481-485
01 Jun 2006
PMID: 16765829

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.

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Web of Science research areas
Clinical Neurology
Pediatrics
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