Document Detail


Familial megalencephaly with dilated Virchow-Robin spaces in magnetic resonance imaging: an autosomal recessive trait?
MedLine Citation:
PMID:  15602091     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
We report the unusual occurrence of progressive megalencephaly and dilated periventricular cystic Virchow-Robin spaces on magnetic resonance imaging in two siblings of a Turkish family. Both affected children in addition presented with psychomotor retardation. Since the index patients were of different gender and their parents were consanguineous, this constellation of findings is suggestive of an autosomal recessive trait.
Authors:
Christoph Härtel; Sandra Bachmann; Carsten Bönnemann; Peter Meinecke; Jürgen Sperner
Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Clinical dysmorphology     Volume:  14     ISSN:  0962-8827     ISO Abbreviation:  Clin. Dysmorphol.     Publication Date:  2005 Jan 
Date Detail:
Created Date:  2004-12-16     Completed Date:  2005-05-26     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  9207893     Medline TA:  Clin Dysmorphol     Country:  England    
Other Details:
Languages:  eng     Pagination:  31-4     Citation Subset:  IM    
Affiliation:
Department of Pediatrics, University of Schleswig-Holstein, Lübeck Medical School, Ratzeburger Allee 160, D-23538 Lübeck, Germany. haertel@paedia.ukl.mu-luebeck.de
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MeSH Terms
Descriptor/Qualifier:
Brain / abnormalities*
Child
Child, Preschool
Female
Genes, Recessive*
Humans
Magnetic Resonance Imaging
Male
Pedigree
Siblings

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