Document Detail

Chiari in the family: inheritance of the Chiari I malformation.
MedLine Citation:
PMID:  16765829     Owner:  NLM     Status:  MEDLINE    
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.
Aimee J Szewka; Laurence E Walsh; Joel C Boaz; Karen S Carvalho; Meredith R Golomb
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Publication Detail:
Type:  Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Pediatric neurology     Volume:  34     ISSN:  0887-8994     ISO Abbreviation:  Pediatr. Neurol.     Publication Date:  2006 Jun 
Date Detail:
Created Date:  2006-06-12     Completed Date:  2006-10-10     Revised Date:  2007-11-14    
Medline Journal Info:
Nlm Unique ID:  8508183     Medline TA:  Pediatr Neurol     Country:  United States    
Other Details:
Languages:  eng     Pagination:  481-5     Citation Subset:  IM    
Division of Pediatric Neurology, Department of Neurology, Indiana University School of Medicine, Indianapolis, Indiana 46202, USA.
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MeSH Terms
Arnold-Chiari Malformation / complications,  genetics*,  pathology
Diseases in Twins / complications,  genetics*,  pathology
Inheritance Patterns / genetics
Twins, Monozygotic*
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