Lymphedema combined with brachydactyly and tachycardia
Identifieur interne : 00B670 ( Main/Curation ); précédent : 00B669; suivant : 00B671Lymphedema combined with brachydactyly and tachycardia
Auteurs : C. Stoll [France] ; Y. Alembik [France] ; B. Dott [France] ; P. Kieffer [France]Source :
- Genetic counseling [ 1015-8146 ] ; 1998.
Descripteurs français
- KwdFr :
- Adulte, Anomalies morphologiques congénitales de la main (diagnostic), Anomalies morphologiques congénitales de la main (génétique), Doigts (malformations), Femelle, Humains, Lymphoedème (diagnostic), Lymphoedème (génétique), Phénotype, Tachycardie paroxystique (diagnostic), Tachycardie paroxystique (génétique).
- MESH :
- diagnostic : Anomalies morphologiques congénitales de la main, Lymphoedème, Tachycardie paroxystique.
- génétique : Anomalies morphologiques congénitales de la main, Lymphoedème, Tachycardie paroxystique.
- malformations : Doigts.
- Pascal (Inist)
- Wicri :
- topic : Homme.
English descriptors
- KwdEn :
- Adult, Brachydactyly, Case study, Female, Finger, Fingers (abnormalities), Genetic disease, Hand Deformities, Congenital (diagnosis), Hand Deformities, Congenital (genetics), Human, Humans, Lymphedema, Lymphedema (diagnosis), Lymphedema (genetics), Phenotype, Tachycardia, Tachycardia, Paroxysmal (diagnosis), Tachycardia, Paroxysmal (genetics), Upper limb.
- MESH :
- abnormalities : Fingers.
- diagnosis : Hand Deformities, Congenital, Lymphedema, Tachycardia, Paroxysmal.
- genetics : Hand Deformities, Congenital, Lymphedema, Tachycardia, Paroxysmal.
- Adult, Female, Humans, Phenotype.
Abstract
Lymphedema combined with brachydactyly and tachycardia: Hereditary lymphedema can appear at birth or later up to adulthood. It may be seen in connection with diverse symptoms forming various syndromes. The authors report a family with hereditary lymphedema, brachydactyly, syndactyly and tachycardia. Lymphedema and tachycardia could appear together by chance. However this combination could also be a syndrome.
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Links to Exploration step
Pascal:98-0171895Le document en format XML
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<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adult</term>
<term>Brachydactyly</term>
<term>Case study</term>
<term>Female</term>
<term>Finger</term>
<term>Fingers (abnormalities)</term>
<term>Genetic disease</term>
<term>Hand Deformities, Congenital (diagnosis)</term>
<term>Hand Deformities, Congenital (genetics)</term>
<term>Human</term>
<term>Humans</term>
<term>Lymphedema</term>
<term>Lymphedema (diagnosis)</term>
<term>Lymphedema (genetics)</term>
<term>Phenotype</term>
<term>Tachycardia</term>
<term>Tachycardia, Paroxysmal (diagnosis)</term>
<term>Tachycardia, Paroxysmal (genetics)</term>
<term>Upper limb</term>
</keywords>
<keywords scheme="KwdFr" xml:lang="fr"><term>Adulte</term>
<term>Anomalies morphologiques congénitales de la main (diagnostic)</term>
<term>Anomalies morphologiques congénitales de la main (génétique)</term>
<term>Doigts (malformations)</term>
<term>Femelle</term>
<term>Humains</term>
<term>Lymphoedème (diagnostic)</term>
<term>Lymphoedème (génétique)</term>
<term>Phénotype</term>
<term>Tachycardie paroxystique (diagnostic)</term>
<term>Tachycardie paroxystique (génétique)</term>
</keywords>
<keywords scheme="MESH" qualifier="abnormalities" xml:lang="en"><term>Fingers</term>
</keywords>
<keywords scheme="MESH" qualifier="diagnosis" xml:lang="en"><term>Hand Deformities, Congenital</term>
<term>Lymphedema</term>
<term>Tachycardia, Paroxysmal</term>
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<keywords scheme="MESH" qualifier="diagnostic" xml:lang="fr"><term>Anomalies morphologiques congénitales de la main</term>
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<term>Tachycardie paroxystique</term>
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<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Hand Deformities, Congenital</term>
<term>Lymphedema</term>
<term>Tachycardia, Paroxysmal</term>
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<keywords scheme="MESH" qualifier="génétique" xml:lang="fr"><term>Anomalies morphologiques congénitales de la main</term>
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<term>Tachycardie paroxystique</term>
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<term>Brachydactylie</term>
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<front><div type="abstract" xml:lang="en">Lymphedema combined with brachydactyly and tachycardia: Hereditary lymphedema can appear at birth or later up to adulthood. It may be seen in connection with diverse symptoms forming various syndromes. The authors report a family with hereditary lymphedema, brachydactyly, syndactyly and tachycardia. Lymphedema and tachycardia could appear together by chance. However this combination could also be a syndrome.</div>
</front>
</TEI>
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<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Brachydactyly</term>
<term>Case study</term>
<term>Finger</term>
<term>Genetic disease</term>
<term>Human</term>
<term>Lymphedema</term>
<term>Phenotype</term>
<term>Tachycardia</term>
<term>Upper limb</term>
</keywords>
<keywords scheme="Pascal" xml:lang="fr"><term>Homme</term>
<term>Maladie héréditaire</term>
<term>Phénotype</term>
<term>Etude cas</term>
<term>Tachycardie</term>
<term>Brachydactylie</term>
<term>Membre supérieur</term>
<term>Lymphoedème</term>
<term>Doigt</term>
</keywords>
<keywords scheme="Wicri" type="topic" xml:lang="fr"><term>Homme</term>
</keywords>
</textClass>
</profileDesc>
</teiHeader>
<front><div type="abstract" xml:lang="en">Lymphedema combined with brachydactyly and tachycardia: Hereditary lymphedema can appear at birth or later up to adulthood. It may be seen in connection with diverse symptoms forming various syndromes. The authors report a family with hereditary lymphedema, brachydactyly, syndactyly and tachycardia. Lymphedema and tachycardia could appear together by chance. However this combination could also be a syndrome.</div>
</front>
</TEI>
</INIST>
<PubMed><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Lymphedema combined with brachydactyly and tachycardia.</title>
<author><name sortKey="Stoll, C" sort="Stoll, C" uniqKey="Stoll C" first="C" last="Stoll">C. Stoll</name>
<affiliation wicri:level="3"><nlm:affiliation>Service de Génétique Médicale, Hôpital de Hautepierre, Strasbourg, France.</nlm:affiliation>
<country xml:lang="fr">France</country>
<wicri:regionArea>Service de Génétique Médicale, Hôpital de Hautepierre, Strasbourg</wicri:regionArea>
<placeName><region type="region">Grand Est</region>
<region type="old region">Alsace (région administrative)</region>
<settlement type="city">Strasbourg</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Alembik, Y" sort="Alembik, Y" uniqKey="Alembik Y" first="Y" last="Alembik">Y. Alembik</name>
</author>
<author><name sortKey="Dott, B" sort="Dott, B" uniqKey="Dott B" first="B" last="Dott">B. Dott</name>
</author>
<author><name sortKey="Kieffer, P" sort="Kieffer, P" uniqKey="Kieffer P" first="P" last="Kieffer">P. Kieffer</name>
</author>
</titleStmt>
<publicationStmt><idno type="wicri:source">PubMed</idno>
<date when="1998">1998</date>
<idno type="RBID">pubmed:9555585</idno>
<idno type="pmid">9555585</idno>
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<idno type="wicri:doubleKey">1015-8146:1998:Stoll C:lymphedema:combined:with</idno>
<idno type="wicri:Area/Main/Merge">00B780</idno>
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<sourceDesc><biblStruct><analytic><title xml:lang="en">Lymphedema combined with brachydactyly and tachycardia.</title>
<author><name sortKey="Stoll, C" sort="Stoll, C" uniqKey="Stoll C" first="C" last="Stoll">C. Stoll</name>
<affiliation wicri:level="3"><nlm:affiliation>Service de Génétique Médicale, Hôpital de Hautepierre, Strasbourg, France.</nlm:affiliation>
<country xml:lang="fr">France</country>
<wicri:regionArea>Service de Génétique Médicale, Hôpital de Hautepierre, Strasbourg</wicri:regionArea>
<placeName><region type="region">Grand Est</region>
<region type="old region">Alsace (région administrative)</region>
<settlement type="city">Strasbourg</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Alembik, Y" sort="Alembik, Y" uniqKey="Alembik Y" first="Y" last="Alembik">Y. Alembik</name>
</author>
<author><name sortKey="Dott, B" sort="Dott, B" uniqKey="Dott B" first="B" last="Dott">B. Dott</name>
</author>
<author><name sortKey="Kieffer, P" sort="Kieffer, P" uniqKey="Kieffer P" first="P" last="Kieffer">P. Kieffer</name>
</author>
</analytic>
<series><title level="j">Genetic counseling (Geneva, Switzerland)</title>
<idno type="ISSN">1015-8146</idno>
<imprint><date when="1998" type="published">1998</date>
</imprint>
</series>
</biblStruct>
</sourceDesc>
</fileDesc>
<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adult</term>
<term>Female</term>
<term>Fingers (abnormalities)</term>
<term>Hand Deformities, Congenital (diagnosis)</term>
<term>Hand Deformities, Congenital (genetics)</term>
<term>Humans</term>
<term>Lymphedema (diagnosis)</term>
<term>Lymphedema (genetics)</term>
<term>Phenotype</term>
<term>Tachycardia, Paroxysmal (diagnosis)</term>
<term>Tachycardia, Paroxysmal (genetics)</term>
</keywords>
<keywords scheme="KwdFr" xml:lang="fr"><term>Adulte</term>
<term>Anomalies morphologiques congénitales de la main (diagnostic)</term>
<term>Anomalies morphologiques congénitales de la main (génétique)</term>
<term>Doigts (malformations)</term>
<term>Femelle</term>
<term>Humains</term>
<term>Lymphoedème (diagnostic)</term>
<term>Lymphoedème (génétique)</term>
<term>Phénotype</term>
<term>Tachycardie paroxystique (diagnostic)</term>
<term>Tachycardie paroxystique (génétique)</term>
</keywords>
<keywords scheme="MESH" qualifier="abnormalities" xml:lang="en"><term>Fingers</term>
</keywords>
<keywords scheme="MESH" qualifier="diagnosis" xml:lang="en"><term>Hand Deformities, Congenital</term>
<term>Lymphedema</term>
<term>Tachycardia, Paroxysmal</term>
</keywords>
<keywords scheme="MESH" qualifier="diagnostic" xml:lang="fr"><term>Anomalies morphologiques congénitales de la main</term>
<term>Lymphoedème</term>
<term>Tachycardie paroxystique</term>
</keywords>
<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Hand Deformities, Congenital</term>
<term>Lymphedema</term>
<term>Tachycardia, Paroxysmal</term>
</keywords>
<keywords scheme="MESH" qualifier="génétique" xml:lang="fr"><term>Anomalies morphologiques congénitales de la main</term>
<term>Lymphoedème</term>
<term>Tachycardie paroxystique</term>
</keywords>
<keywords scheme="MESH" qualifier="malformations" xml:lang="fr"><term>Doigts</term>
</keywords>
<keywords scheme="MESH" xml:lang="en"><term>Adult</term>
<term>Female</term>
<term>Humans</term>
<term>Phenotype</term>
</keywords>
<keywords scheme="MESH" xml:lang="fr"><term>Adulte</term>
<term>Femelle</term>
<term>Humains</term>
<term>Phénotype</term>
</keywords>
</textClass>
</profileDesc>
</teiHeader>
<front><div type="abstract" xml:lang="en">Hereditary lymphedema can appear at birth or later up to adulthood. It may be seen in connection with diverse symptoms forming various syndromes. The authors report a family with hereditary lymphedema, brachydactyly, syndactyly and tachycardia. Lymphedema and tachycardia could appear together by chance. However this combination could also be a syndrome.</div>
</front>
</TEI>
</PubMed>
</double>
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