| Marfan syndrome masked by Down syndrome? | |
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MedLine Citation:
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PMID: 19949477 Owner: NLM Status: In-Data-Review |
Abstract/OtherAbstract:
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Down syndrome is the most common chromosomal abnormality. A simultaneous occurrence with Marfan syndrome is extremely rare. We present a case of a 28-year-old female with Down syndrome and a mutation in the fibrillin-1 gene. The patient showed strikingly few manifestations of Marfan syndrome. Although variable expression is known to be present in Marfan syndrome, phenotypic expression of Marfan syndrome in our patient might be masked by the co-occurrence of Down syndrome. (Neth Heart J 2009;17:345-8.). |
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Authors:
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J C Vis; K van Engelen; J Timmermans; B C Hamel; B J M Mulder |
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Publication Detail:
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Type: Journal Article |
Journal Detail:
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Title: Netherlands heart journal : monthly journal of the Netherlands Society of Cardiology and the Netherlands Heart Foundation Volume: 17 ISSN: 1568-5888 ISO Abbreviation: Neth Heart J Publication Date: 2009 Sep |
Date Detail:
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Created Date: 2009-12-01 Completed Date: - Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 101095458 Medline TA: Neth Heart J Country: Netherlands |
Other Details:
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Languages: eng Pagination: 345-8 Citation Subset: - |
Affiliation:
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Department of Cardiology, Academic Medical Center, Amsterdam, the Netherlands. |
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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