Syndrome classification of hereditary lymphedema
Identifieur interne : 000648 ( PascalFrancis/Corpus ); précédent : 000647; suivant : 000649Syndrome classification of hereditary lymphedema
Auteurs : K. A. Northup ; M. H. Witte ; C. L. WitteSource :
- Lymphology [ 0024-7766 ] ; 2003.
Descripteurs français
- Pascal (Inist)
English descriptors
- KwdEn :
Abstract
Since the late 1800's, the familial occurrence of peripheral lymphedema has been well-documented in Milroy and Meige syndromes. However, the presence of lymphedema in many other hereditary dysmorphic syndromes has not been fully appreciated. In order to establish more standardized and detailed clinical phenotypic criteria as the basis for rational classification and for greater precision in screening and genetic linkage studies, we conducted a comprehensive literature search and review of OMIM-identified and non-idemified hereditary syndromes in which lymphedema was reported as a feature. Modes of inheritance, associated clinical features and images, and specific organ involvement were inventoried and suggested pathophysiologic mechanisms noted. The findings support the recommendation that when peripheral lymphedema of undetermined etiology is found, further careful, comprehensive clinical, including detailed dysmorphic, evaluation along with lymphatic imaging with subsequent syndrontic classification is warranted. This information can provide clues to underlying pathogenesis and form the basis for genetic counseling and prognostication as well as offer guidance to the clinical investigator sranslating research as the molecular level into new approaches for evaluation and sherapy.
Notice en format standard (ISO 2709)
Pour connaître la documentation sur le format Inist Standard.
pA |
|
---|
Format Inist (serveur)
NO : | PASCAL 04-0176412 INIST |
---|---|
ET : | Syndrome classification of hereditary lymphedema |
AU : | NORTHUP (K. A.); WITTE (M. H.); WITTE (C. L.) |
AF : | Department of Surgery, University of Arizona College of Medicine/Tucson, Arizona/Etats-Unis (1 aut., 2 aut., 3 aut.) |
DT : | Publication en série; Niveau analytique |
SO : | Lymphology; ISSN 0024-7766; Coden LYMPBN; Etats-Unis; Da. 2003; Vol. 36; No. 4; Pp. 162-189; Bibl. 141 ref. |
LA : | Anglais |
EA : | Since the late 1800's, the familial occurrence of peripheral lymphedema has been well-documented in Milroy and Meige syndromes. However, the presence of lymphedema in many other hereditary dysmorphic syndromes has not been fully appreciated. In order to establish more standardized and detailed clinical phenotypic criteria as the basis for rational classification and for greater precision in screening and genetic linkage studies, we conducted a comprehensive literature search and review of OMIM-identified and non-idemified hereditary syndromes in which lymphedema was reported as a feature. Modes of inheritance, associated clinical features and images, and specific organ involvement were inventoried and suggested pathophysiologic mechanisms noted. The findings support the recommendation that when peripheral lymphedema of undetermined etiology is found, further careful, comprehensive clinical, including detailed dysmorphic, evaluation along with lymphatic imaging with subsequent syndrontic classification is warranted. This information can provide clues to underlying pathogenesis and form the basis for genetic counseling and prognostication as well as offer guidance to the clinical investigator sranslating research as the molecular level into new approaches for evaluation and sherapy. |
CC : | 002B12B04 |
FD : | Lymphoedème; Maladie héréditaire; Homme; Classification |
FG : | Appareil circulatoire pathologie; Lymphatique pathologie |
ED : | Lymphedema; Genetic disease; Human; Classification |
EG : | Cardiovascular disease; Lymphatic vessel disease |
SD : | Linfedema; Enfermedad hereditaria; Hombre; Clasificación |
LO : | INIST-14604.354000119215670010 |
ID : | 04-0176412 |
Links to Exploration step
Pascal:04-0176412Le document en format XML
<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en" level="a">Syndrome classification of hereditary lymphedema</title>
<author><name sortKey="Northup, K A" sort="Northup, K A" uniqKey="Northup K" first="K. A." last="Northup">K. A. Northup</name>
<affiliation><inist:fA14 i1="01"><s1>Department of Surgery, University of Arizona College of Medicine</s1>
<s2>Tucson, Arizona</s2>
<s3>USA</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>3 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
<author><name sortKey="Witte, M H" sort="Witte, M H" uniqKey="Witte M" first="M. H." last="Witte">M. H. Witte</name>
<affiliation><inist:fA14 i1="01"><s1>Department of Surgery, University of Arizona College of Medicine</s1>
<s2>Tucson, Arizona</s2>
<s3>USA</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>3 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
<author><name sortKey="Witte, C L" sort="Witte, C L" uniqKey="Witte C" first="C. L." last="Witte">C. L. Witte</name>
<affiliation><inist:fA14 i1="01"><s1>Department of Surgery, University of Arizona College of Medicine</s1>
<s2>Tucson, Arizona</s2>
<s3>USA</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>3 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
</titleStmt>
<publicationStmt><idno type="wicri:source">INIST</idno>
<idno type="inist">04-0176412</idno>
<date when="2003">2003</date>
<idno type="stanalyst">PASCAL 04-0176412 INIST</idno>
<idno type="RBID">Pascal:04-0176412</idno>
<idno type="wicri:Area/PascalFrancis/Corpus">000648</idno>
</publicationStmt>
<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a">Syndrome classification of hereditary lymphedema</title>
<author><name sortKey="Northup, K A" sort="Northup, K A" uniqKey="Northup K" first="K. A." last="Northup">K. A. Northup</name>
<affiliation><inist:fA14 i1="01"><s1>Department of Surgery, University of Arizona College of Medicine</s1>
<s2>Tucson, Arizona</s2>
<s3>USA</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>3 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
<author><name sortKey="Witte, M H" sort="Witte, M H" uniqKey="Witte M" first="M. H." last="Witte">M. H. Witte</name>
<affiliation><inist:fA14 i1="01"><s1>Department of Surgery, University of Arizona College of Medicine</s1>
<s2>Tucson, Arizona</s2>
<s3>USA</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>3 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
<author><name sortKey="Witte, C L" sort="Witte, C L" uniqKey="Witte C" first="C. L." last="Witte">C. L. Witte</name>
<affiliation><inist:fA14 i1="01"><s1>Department of Surgery, University of Arizona College of Medicine</s1>
<s2>Tucson, Arizona</s2>
<s3>USA</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>3 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
</analytic>
<series><title level="j" type="main">Lymphology</title>
<title level="j" type="abbreviated">Lymphology</title>
<idno type="ISSN">0024-7766</idno>
<imprint><date when="2003">2003</date>
</imprint>
</series>
</biblStruct>
</sourceDesc>
<seriesStmt><title level="j" type="main">Lymphology</title>
<title level="j" type="abbreviated">Lymphology</title>
<idno type="ISSN">0024-7766</idno>
</seriesStmt>
</fileDesc>
<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Classification</term>
<term>Genetic disease</term>
<term>Human</term>
<term>Lymphedema</term>
</keywords>
<keywords scheme="Pascal" xml:lang="fr"><term>Lymphoedème</term>
<term>Maladie héréditaire</term>
<term>Homme</term>
<term>Classification</term>
</keywords>
</textClass>
</profileDesc>
</teiHeader>
<front><div type="abstract" xml:lang="en">Since the late 1800's, the familial occurrence of peripheral lymphedema has been well-documented in Milroy and Meige syndromes. However, the presence of lymphedema in many other hereditary dysmorphic syndromes has not been fully appreciated. In order to establish more standardized and detailed clinical phenotypic criteria as the basis for rational classification and for greater precision in screening and genetic linkage studies, we conducted a comprehensive literature search and review of OMIM-identified and non-idemified hereditary syndromes in which lymphedema was reported as a feature. Modes of inheritance, associated clinical features and images, and specific organ involvement were inventoried and suggested pathophysiologic mechanisms noted. The findings support the recommendation that when peripheral lymphedema of undetermined etiology is found, further careful, comprehensive clinical, including detailed dysmorphic, evaluation along with lymphatic imaging with subsequent syndrontic classification is warranted. This information can provide clues to underlying pathogenesis and form the basis for genetic counseling and prognostication as well as offer guidance to the clinical investigator sranslating research as the molecular level into new approaches for evaluation and sherapy.</div>
</front>
</TEI>
<inist><standard h6="B"><pA><fA01 i1="01" i2="1"><s0>0024-7766</s0>
</fA01>
<fA02 i1="01"><s0>LYMPBN</s0>
</fA02>
<fA03 i2="1"><s0>Lymphology</s0>
</fA03>
<fA05><s2>36</s2>
</fA05>
<fA06><s2>4</s2>
</fA06>
<fA08 i1="01" i2="1" l="ENG"><s1>Syndrome classification of hereditary lymphedema</s1>
</fA08>
<fA11 i1="01" i2="1"><s1>NORTHUP (K. A.)</s1>
</fA11>
<fA11 i1="02" i2="1"><s1>WITTE (M. H.)</s1>
</fA11>
<fA11 i1="03" i2="1"><s1>WITTE (C. L.)</s1>
</fA11>
<fA14 i1="01"><s1>Department of Surgery, University of Arizona College of Medicine</s1>
<s2>Tucson, Arizona</s2>
<s3>USA</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>3 aut.</sZ>
</fA14>
<fA20><s1>162-189</s1>
</fA20>
<fA21><s1>2003</s1>
</fA21>
<fA23 i1="01"><s0>ENG</s0>
</fA23>
<fA43 i1="01"><s1>INIST</s1>
<s2>14604</s2>
<s5>354000119215670010</s5>
</fA43>
<fA44><s0>0000</s0>
<s1>© 2004 INIST-CNRS. All rights reserved.</s1>
</fA44>
<fA45><s0>141 ref.</s0>
</fA45>
<fA47 i1="01" i2="1"><s0>04-0176412</s0>
</fA47>
<fA60><s1>P</s1>
</fA60>
<fA61><s0>A</s0>
</fA61>
<fA64 i1="01" i2="1"><s0>Lymphology</s0>
</fA64>
<fA66 i1="01"><s0>USA</s0>
</fA66>
<fC01 i1="01" l="ENG"><s0>Since the late 1800's, the familial occurrence of peripheral lymphedema has been well-documented in Milroy and Meige syndromes. However, the presence of lymphedema in many other hereditary dysmorphic syndromes has not been fully appreciated. In order to establish more standardized and detailed clinical phenotypic criteria as the basis for rational classification and for greater precision in screening and genetic linkage studies, we conducted a comprehensive literature search and review of OMIM-identified and non-idemified hereditary syndromes in which lymphedema was reported as a feature. Modes of inheritance, associated clinical features and images, and specific organ involvement were inventoried and suggested pathophysiologic mechanisms noted. The findings support the recommendation that when peripheral lymphedema of undetermined etiology is found, further careful, comprehensive clinical, including detailed dysmorphic, evaluation along with lymphatic imaging with subsequent syndrontic classification is warranted. This information can provide clues to underlying pathogenesis and form the basis for genetic counseling and prognostication as well as offer guidance to the clinical investigator sranslating research as the molecular level into new approaches for evaluation and sherapy.</s0>
</fC01>
<fC02 i1="01" i2="X"><s0>002B12B04</s0>
</fC02>
<fC03 i1="01" i2="X" l="FRE"><s0>Lymphoedème</s0>
<s5>01</s5>
</fC03>
<fC03 i1="01" i2="X" l="ENG"><s0>Lymphedema</s0>
<s5>01</s5>
</fC03>
<fC03 i1="01" i2="X" l="SPA"><s0>Linfedema</s0>
<s5>01</s5>
</fC03>
<fC03 i1="02" i2="X" l="FRE"><s0>Maladie héréditaire</s0>
<s5>02</s5>
</fC03>
<fC03 i1="02" i2="X" l="ENG"><s0>Genetic disease</s0>
<s5>02</s5>
</fC03>
<fC03 i1="02" i2="X" l="SPA"><s0>Enfermedad hereditaria</s0>
<s5>02</s5>
</fC03>
<fC03 i1="03" i2="X" l="FRE"><s0>Homme</s0>
<s5>18</s5>
</fC03>
<fC03 i1="03" i2="X" l="ENG"><s0>Human</s0>
<s5>18</s5>
</fC03>
<fC03 i1="03" i2="X" l="SPA"><s0>Hombre</s0>
<s5>18</s5>
</fC03>
<fC03 i1="04" i2="X" l="FRE"><s0>Classification</s0>
<s5>20</s5>
</fC03>
<fC03 i1="04" i2="X" l="ENG"><s0>Classification</s0>
<s5>20</s5>
</fC03>
<fC03 i1="04" i2="X" l="SPA"><s0>Clasificación</s0>
<s5>20</s5>
</fC03>
<fC07 i1="01" i2="X" l="FRE"><s0>Appareil circulatoire pathologie</s0>
<s5>37</s5>
</fC07>
<fC07 i1="01" i2="X" l="ENG"><s0>Cardiovascular disease</s0>
<s5>37</s5>
</fC07>
<fC07 i1="01" i2="X" l="SPA"><s0>Aparato circulatorio patología</s0>
<s5>37</s5>
</fC07>
<fC07 i1="02" i2="X" l="FRE"><s0>Lymphatique pathologie</s0>
<s5>38</s5>
</fC07>
<fC07 i1="02" i2="X" l="ENG"><s0>Lymphatic vessel disease</s0>
<s5>38</s5>
</fC07>
<fC07 i1="02" i2="X" l="SPA"><s0>Linfático patología</s0>
<s5>38</s5>
</fC07>
<fN21><s1>117</s1>
</fN21>
<fN82><s1>PSI</s1>
</fN82>
</pA>
</standard>
<server><NO>PASCAL 04-0176412 INIST</NO>
<ET>Syndrome classification of hereditary lymphedema</ET>
<AU>NORTHUP (K. A.); WITTE (M. H.); WITTE (C. L.)</AU>
<AF>Department of Surgery, University of Arizona College of Medicine/Tucson, Arizona/Etats-Unis (1 aut., 2 aut., 3 aut.)</AF>
<DT>Publication en série; Niveau analytique</DT>
<SO>Lymphology; ISSN 0024-7766; Coden LYMPBN; Etats-Unis; Da. 2003; Vol. 36; No. 4; Pp. 162-189; Bibl. 141 ref.</SO>
<LA>Anglais</LA>
<EA>Since the late 1800's, the familial occurrence of peripheral lymphedema has been well-documented in Milroy and Meige syndromes. However, the presence of lymphedema in many other hereditary dysmorphic syndromes has not been fully appreciated. In order to establish more standardized and detailed clinical phenotypic criteria as the basis for rational classification and for greater precision in screening and genetic linkage studies, we conducted a comprehensive literature search and review of OMIM-identified and non-idemified hereditary syndromes in which lymphedema was reported as a feature. Modes of inheritance, associated clinical features and images, and specific organ involvement were inventoried and suggested pathophysiologic mechanisms noted. The findings support the recommendation that when peripheral lymphedema of undetermined etiology is found, further careful, comprehensive clinical, including detailed dysmorphic, evaluation along with lymphatic imaging with subsequent syndrontic classification is warranted. This information can provide clues to underlying pathogenesis and form the basis for genetic counseling and prognostication as well as offer guidance to the clinical investigator sranslating research as the molecular level into new approaches for evaluation and sherapy.</EA>
<CC>002B12B04</CC>
<FD>Lymphoedème; Maladie héréditaire; Homme; Classification</FD>
<FG>Appareil circulatoire pathologie; Lymphatique pathologie</FG>
<ED>Lymphedema; Genetic disease; Human; Classification</ED>
<EG>Cardiovascular disease; Lymphatic vessel disease</EG>
<SD>Linfedema; Enfermedad hereditaria; Hombre; Clasificación</SD>
<LO>INIST-14604.354000119215670010</LO>
<ID>04-0176412</ID>
</server>
</inist>
</record>
Pour manipuler ce document sous Unix (Dilib)
EXPLOR_STEP=$WICRI_ROOT/Wicri/Sante/explor/LymphedemaV1/Data/PascalFrancis/Corpus
HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 000648 | SxmlIndent | more
Ou
HfdSelect -h $EXPLOR_AREA/Data/PascalFrancis/Corpus/biblio.hfd -nk 000648 | SxmlIndent | more
Pour mettre un lien sur cette page dans le réseau Wicri
{{Explor lien |wiki= Wicri/Sante |area= LymphedemaV1 |flux= PascalFrancis |étape= Corpus |type= RBID |clé= Pascal:04-0176412 |texte= Syndrome classification of hereditary lymphedema }}
This area was generated with Dilib version V0.6.31. |