| Familial megalencephaly with dilated Virchow-Robin spaces in magnetic resonance imaging: an autosomal recessive trait? | |
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MedLine Citation:
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PMID: 15602091 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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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. |
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Authors:
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Christoph Härtel; Sandra Bachmann; Carsten Bönnemann; Peter Meinecke; Jürgen Sperner |
Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: Clinical dysmorphology Volume: 14 ISSN: 0962-8827 ISO Abbreviation: Clin. Dysmorphol. Publication Date: 2005 Jan |
Date Detail:
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Created Date: 2004-12-16 Completed Date: 2005-05-26 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 9207893 Medline TA: Clin Dysmorphol Country: England |
Other Details:
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Languages: eng Pagination: 31-4 Citation Subset: IM |
Affiliation:
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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:
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Brain
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abnormalities* Child Child, Preschool Female Genes, Recessive* Humans Magnetic Resonance Imaging Male Pedigree Siblings |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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