| Klippel-Trenaunay syndrome: diagnostic criteria and hypothesis on etiology. | |
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MedLine Citation:
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PMID: 18216519 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Klippel-Trenaunay syndrome (KTS) is a congenital malformation syndrome involving blood and lymph vessels and disturbed growth of bone and soft tissues. The clinical presentation can be extremely variable. An extensive literature search showed that various authors used many different diagnostic criteria. Uniform diagnostic criteria are an absolute prerequisite for successful molecular studies and for comparisons between various studies on almost any aspect of the disorder. Based on data from 3 unusually experienced colleagues and our experience, we propose restrictive diagnostic criteria, which still respect the extremely variable nature of KTS. Important aspects are that growth can be both increased and decreased, very small arteriovenous fistula can be present, and varicosities do not need to be present. Several hypotheses regarding cause and pathogenesis in KTS exist, but none explains all KTS characteristics completely. We propose yet another hypothesis which is at variance with the hypothesis of paradominant inheritance. |
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Authors:
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Charlène E U Oduber; Chantal M A M van der Horst; Raoul C M Hennekam |
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Publication Detail:
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Type: Journal Article; Review |
Journal Detail:
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Title: Annals of plastic surgery Volume: 60 ISSN: 0148-7043 ISO Abbreviation: Ann Plast Surg Publication Date: 2008 Feb |
Date Detail:
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Created Date: 2008-01-24 Completed Date: 2008-04-10 Revised Date: 2009-11-03 |
Medline Journal Info:
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Nlm Unique ID: 7805336 Medline TA: Ann Plast Surg Country: United States |
Other Details:
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Languages: eng Pagination: 217-23 Citation Subset: IM |
Affiliation:
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Department of Plastic, Reconstructive and Hand Surgery, Academic Medical Centre, Amsterdam, The Netherlands. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Arteriovenous Malformations
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genetics Germ-Line Mutation Humans Klippel-Trenaunay-Weber Syndrome / diagnosis*, genetics*, physiopathology Magnetic Resonance Imaging Polymorphism, Genetic |
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