A new classification system for primary lymphatic dysplasias based on phenotype
Identifieur interne : 000302 ( Istex/Curation ); précédent : 000301; suivant : 000303A new classification system for primary lymphatic dysplasias based on phenotype
Auteurs : F. Connell ; G. Brice [Royaume-Uni] ; S. Jeffery ; V. Keeley [Royaume-Uni] ; P. Mortimer [Royaume-Uni] ; S. Mansour [Royaume-Uni]Source :
- Clinical Genetics [ 0009-9163 ] ; 2010-05.
Abstract
Connell F, Brice G, Jeffery S, Keeley V, Mortimer P, Mansour S. A new classification system for primary lymphatic dysplasias based on phenotype. Traditional classification systems for lymphoedema are of limited use for the diagnosis of specific forms of primary lymphoedema. The understanding of primary lymphoedema has been impeded by confusing terminology and a tendency to simply divide patients into three categories based on the age of onset: lymphoedema congenita manifests at or shortly after birth, lymphoedema praecox is apparent before the age of 35 years and lymphoedema tarda manifests thereafter. The clinical presentation in the spectrum of primary lymphoedema disorders is very variable; the phenotypes of primary lymphoedema conditions vary in the age of onset, site of the oedema, inheritance patterns, associated features and genetic causes. Different inheritance patterns are recognised and there are numerous associated anomalies. Some subgroups, such as Milroy disease and Lymphoedema distichiasis, are well characterised, but others are not. A new clinical classification for primary lymphoedema has been developed as a diagnostic algorithm. Its use is demonstrated on 333 probands referred to our lymphoedema clinic. Grouping patients by accurate phenotyping facilitates molecular investigations, understanding of inheritance patterns, and the natural history of different types of primary lymphoedema. Descriptions of the diagnostic categories, some of which have not been previously clearly defined as distinct clinical entities, are illustrated by clinical cases.
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DOI: 10.1111/j.1399-0004.2010.01394.x
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F. Connell<affiliation><mods:affiliation>Medical Genetics Unit, Clinical Developmental Sciences</mods:affiliation><wicri:noCountry code="subField">Sciences</wicri:noCountry></affiliation><affiliation><mods:affiliation>Medical Genetics Unit, Clinical Developmental Sciences</mods:affiliation><wicri:noCountry code="subField">Sciences</wicri:noCountry></affiliation>Le document en format XML
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Mansour</name><affiliation wicri:level="1"><mods:affiliation>South West Thames Regional Genetics Unit, St George's University of London, Cranmer Terrace, London SW17 0RE, UK</mods:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>South West Thames Regional Genetics Unit, St George's University of London, Cranmer Terrace, London SW17 0RE</wicri:regionArea></affiliation><affiliation wicri:level="1"><mods:affiliation>E-mail: smansour@sgul.ac.uk</mods:affiliation><country wicri:rule="url">Royaume-Uni</country></affiliation></author></analytic><monogr></monogr><series><title level="j" type="main">Clinical Genetics</title><title level="j" type="alt">CLINICAL GENETICS</title><idno type="ISSN">0009-9163</idno><idno type="eISSN">1399-0004</idno><imprint><biblScope unit="vol">77</biblScope><biblScope unit="issue">5</biblScope><biblScope unit="page" from="438">438</biblScope><biblScope unit="page" to="452">452</biblScope><biblScope unit="page-count">15</biblScope><publisher>Blackwell Publishing Ltd</publisher><pubPlace>Oxford, UK</pubPlace><date type="published" when="2010-05">2010-05</date></imprint><idno type="ISSN">0009-9163</idno></series></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0009-9163</idno></seriesStmt></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Connell F, Brice G, Jeffery S, Keeley V, Mortimer P, Mansour S. A new classification system for primary lymphatic dysplasias based on phenotype. Traditional classification systems for lymphoedema are of limited use for the diagnosis of specific forms of primary lymphoedema. The understanding of primary lymphoedema has been impeded by confusing terminology and a tendency to simply divide patients into three categories based on the age of onset: lymphoedema congenita manifests at or shortly after birth, lymphoedema praecox is apparent before the age of 35 years and lymphoedema tarda manifests thereafter. The clinical presentation in the spectrum of primary lymphoedema disorders is very variable; the phenotypes of primary lymphoedema conditions vary in the age of onset, site of the oedema, inheritance patterns, associated features and genetic causes. Different inheritance patterns are recognised and there are numerous associated anomalies. Some subgroups, such as Milroy disease and Lymphoedema distichiasis, are well characterised, but others are not. A new clinical classification for primary lymphoedema has been developed as a diagnostic algorithm. Its use is demonstrated on 333 probands referred to our lymphoedema clinic. Grouping patients by accurate phenotyping facilitates molecular investigations, understanding of inheritance patterns, and the natural history of different types of primary lymphoedema. Descriptions of the diagnostic categories, some of which have not been previously clearly defined as distinct clinical entities, are illustrated by clinical cases.</div></front></TEI></record>Pour manipuler ce document sous Unix (Dilib)
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