Lymphedema combined with brachydactyly and tachycardia.
Identifieur interne : 00BB68 ( Ncbi/Checkpoint ); précédent : 00BB67; suivant : 00BB69Lymphedema combined with brachydactyly and tachycardia.
Auteurs : C. Stoll [France] ; Y. Alembik ; B. Dott ; P. KiefferSource :
- Genetic counseling (Geneva, Switzerland) [ 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.
- Adulte, Femelle, Humains, Phénotype.
English descriptors
- KwdEn :
- MESH :
- abnormalities : Fingers.
- diagnosis : Hand Deformities, Congenital, Lymphedema, Tachycardia, Paroxysmal.
- genetics : Hand Deformities, Congenital, Lymphedema, Tachycardia, Paroxysmal.
- Adult, Female, Humans, Phenotype.
Abstract
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.
PubMed: 9555585
Affiliations:
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pubmed:9555585Le document en format XML
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<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>
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<author><name sortKey="Alembik, Y" sort="Alembik, Y" uniqKey="Alembik Y" first="Y" last="Alembik">Y. Alembik</name>
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<author><name sortKey="Dott, B" sort="Dott, B" uniqKey="Dott B" first="B" last="Dott">B. Dott</name>
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<author><name sortKey="Kieffer, P" sort="Kieffer, P" uniqKey="Kieffer P" first="P" last="Kieffer">P. Kieffer</name>
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<affiliation wicri:level="3"><nlm:affiliation>Service de Génétique Médicale, Hôpital de Hautepierre, Strasbourg, France.</nlm:affiliation>
<country xml:lang="fr">France</country>
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<author><name sortKey="Alembik, Y" sort="Alembik, Y" uniqKey="Alembik Y" first="Y" last="Alembik">Y. Alembik</name>
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<author><name sortKey="Dott, B" sort="Dott, B" uniqKey="Dott B" first="B" last="Dott">B. Dott</name>
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<author><name sortKey="Kieffer, P" sort="Kieffer, P" uniqKey="Kieffer P" first="P" last="Kieffer">P. Kieffer</name>
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<series><title level="j">Genetic counseling (Geneva, Switzerland)</title>
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<imprint><date when="1998" type="published">1998</date>
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<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>
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<term>Tachycardie paroxystique</term>
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<keywords scheme="MESH" qualifier="malformations" xml:lang="fr"><term>Doigts</term>
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<keywords scheme="MESH" xml:lang="en"><term>Adult</term>
<term>Female</term>
<term>Humans</term>
<term>Phenotype</term>
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<keywords scheme="MESH" xml:lang="fr"><term>Adulte</term>
<term>Femelle</term>
<term>Humains</term>
<term>Phénotype</term>
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<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>
<affiliations><list><country><li>France</li>
</country>
<region><li>Alsace (région administrative)</li>
<li>Grand Est</li>
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<settlement><li>Strasbourg</li>
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<tree><noCountry><name sortKey="Alembik, Y" sort="Alembik, Y" uniqKey="Alembik Y" first="Y" last="Alembik">Y. Alembik</name>
<name sortKey="Dott, B" sort="Dott, B" uniqKey="Dott B" first="B" last="Dott">B. Dott</name>
<name sortKey="Kieffer, P" sort="Kieffer, P" uniqKey="Kieffer P" first="P" last="Kieffer">P. Kieffer</name>
</noCountry>
<country name="France"><region name="Grand Est"><name sortKey="Stoll, C" sort="Stoll, C" uniqKey="Stoll C" first="C" last="Stoll">C. Stoll</name>
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