Lymphoscintigraphic manifestations of Hennekam syndrome--a case report.
Identifieur interne : 000227 ( Ncbi/Merge ); précédent : 000226; suivant : 000228Lymphoscintigraphic manifestations of Hennekam syndrome--a case report.
Auteurs : S G Rockson [États-Unis] ; M. De Los Santos ; A. SzubaSource :
- Angiology [ 0003-3197 ] ; 1999.
Descripteurs français
- KwdFr :
- MESH :
- imagerie diagnostique : Lymphangiectasie intestinale, Lymphoedème.
- Adolescent, Déficience intellectuelle, Faciès, Femelle, Humains, Scintigraphie, Syndrome.
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
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pubmed:10609768Le document en format XML
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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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<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adolescent</term>
<term>Facies</term>
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<term>Lymphangiectasis, Intestinal (diagnostic imaging)</term>
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<term>Radionuclide Imaging</term>
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<keywords scheme="KwdFr" xml:lang="fr"><term>Adolescent</term>
<term>Déficience intellectuelle</term>
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<term>Humains</term>
<term>Lymphangiectasie intestinale (imagerie diagnostique)</term>
<term>Lymphoedème (imagerie diagnostique)</term>
<term>Scintigraphie</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" qualifier="imagerie diagnostique" xml:lang="fr"><term>Lymphangiectasie intestinale</term>
<term>Lymphoedème</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>
<term>Syndrome</term>
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<term>Déficience intellectuelle</term>
<term>Faciès</term>
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<term>Scintigraphie</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>
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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>
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