Lymphoscintigraphic manifestations of Hennekam syndrome--a case report.
Identifieur interne : 004B63 ( PubMed/Corpus ); précédent : 004B62; suivant : 004B64Lymphoscintigraphic manifestations of Hennekam syndrome--a case report.
Auteurs : S G Rockson ; M. De Los Santos ; A. SzubaSource :
- Angiology [ 0003-3197 ] ; 1999.
English descriptors
- KwdEn :
- MESH :
- diagnostic imaging : Lymphangiectasis, Intestinal, Lymphedema.
- Adolescent, Facies, Female, Humans, Intellectual Disability, Radionuclide Imaging, Syndrome.
Abstract
Hennekam syndrome is a rare, recently described genetic disorder in which facial anomalies and mental retardation accompany congenital lymphedema and intestinal lymphangiectasia. Several other somatic abnormalities have variously been described, as have milder degrees of lymphatic dysfunction. The authors herein describe a case of Hennekam syndrome in which the diagnostic difficulties were partially overcome by the judicious use of radionuclide scintigraphy to verify the lymphedematous component of the patient's presentation.
DOI: 10.1177/000331979905001207
PubMed: 10609768
Links to Exploration step
pubmed:10609768Le document en format XML
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<author><name sortKey="Rockson, S G" sort="Rockson, S G" uniqKey="Rockson S" first="S G" last="Rockson">S G Rockson</name>
<affiliation><nlm:affiliation>Division of Cardiovascular Medicine, Stanford University School of Medicine, California 94305, USA. rockson@leland.stanford.edu</nlm:affiliation>
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<author><name sortKey="De Los Santos, M" sort="De Los Santos, M" uniqKey="De Los Santos M" first="M" last="De Los Santos">M. De Los Santos</name>
</author>
<author><name sortKey="Szuba, A" sort="Szuba, A" uniqKey="Szuba A" first="A" last="Szuba">A. Szuba</name>
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<sourceDesc><biblStruct><analytic><title xml:lang="en">Lymphoscintigraphic manifestations of Hennekam syndrome--a case report.</title>
<author><name sortKey="Rockson, S G" sort="Rockson, S G" uniqKey="Rockson S" first="S G" last="Rockson">S G Rockson</name>
<affiliation><nlm:affiliation>Division of Cardiovascular Medicine, Stanford University School of Medicine, California 94305, USA. rockson@leland.stanford.edu</nlm:affiliation>
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<author><name sortKey="De Los Santos, M" sort="De Los Santos, M" uniqKey="De Los Santos M" first="M" last="De Los Santos">M. De Los Santos</name>
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<author><name sortKey="Szuba, A" sort="Szuba, A" uniqKey="Szuba A" first="A" last="Szuba">A. Szuba</name>
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<series><title level="j">Angiology</title>
<idno type="ISSN">0003-3197</idno>
<imprint><date when="1999" type="published">1999</date>
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<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adolescent</term>
<term>Facies</term>
<term>Female</term>
<term>Humans</term>
<term>Intellectual Disability</term>
<term>Lymphangiectasis, Intestinal (diagnostic imaging)</term>
<term>Lymphedema (diagnostic imaging)</term>
<term>Radionuclide Imaging</term>
<term>Syndrome</term>
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<keywords scheme="MESH" qualifier="diagnostic imaging" xml:lang="en"><term>Lymphangiectasis, Intestinal</term>
<term>Lymphedema</term>
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<keywords scheme="MESH" xml:lang="en"><term>Adolescent</term>
<term>Facies</term>
<term>Female</term>
<term>Humans</term>
<term>Intellectual Disability</term>
<term>Radionuclide Imaging</term>
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<front><div type="abstract" xml:lang="en">Hennekam syndrome is a rare, recently described genetic disorder in which facial anomalies and mental retardation accompany congenital lymphedema and intestinal lymphangiectasia. Several other somatic abnormalities have variously been described, as have milder degrees of lymphatic dysfunction. The authors herein describe a case of Hennekam syndrome in which the diagnostic difficulties were partially overcome by the judicious use of radionuclide scintigraphy to verify the lymphedematous component of the patient's presentation.</div>
</front>
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<DateRevised><Year>2017</Year>
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<Article PubModel="Print"><Journal><ISSN IssnType="Print">0003-3197</ISSN>
<JournalIssue CitedMedium="Print"><Volume>50</Volume>
<Issue>12</Issue>
<PubDate><Year>1999</Year>
<Month>Dec</Month>
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<Title>Angiology</Title>
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<ArticleTitle>Lymphoscintigraphic manifestations of Hennekam syndrome--a case report.</ArticleTitle>
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<Abstract><AbstractText>Hennekam syndrome is a rare, recently described genetic disorder in which facial anomalies and mental retardation accompany congenital lymphedema and intestinal lymphangiectasia. Several other somatic abnormalities have variously been described, as have milder degrees of lymphatic dysfunction. The authors herein describe a case of Hennekam syndrome in which the diagnostic difficulties were partially overcome by the judicious use of radionuclide scintigraphy to verify the lymphedematous component of the patient's presentation.</AbstractText>
</Abstract>
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