Lymphedema, cardiac septal defects, and characteristic facies: possible new case of Irons-Bianchi syndrome.
Identifieur interne : 002899 ( Ncbi/Curation ); précédent : 002898; suivant : 002900Lymphedema, cardiac septal defects, and characteristic facies: possible new case of Irons-Bianchi syndrome.
Auteurs : M A M. Van Steensel [Pays-Bas] ; M. Van Geel ; C. Schrander-Stumpel ; P M Steijlen ; J C J M. VeraartSource :
- American journal of medical genetics. Part A [ 1552-4825 ] ; 2007.
Descripteurs français
- KwdFr :
- Anasarque foeto-placentaire (diagnostic), Communications interventriculaires (diagnostic), Enfant d'âge préscolaire, Faciès, Facteurs de transcription (génétique), Facteurs de transcription Forkhead (génétique), Facteurs de transcription SOX-F, Femelle, Humains, Lymphoedème (), Lymphoedème (anatomopathologie), Lymphoedème (diagnostic), Phénotype, Protéines HMG (génétique), Récepteur-3 au facteur croissance endothéliale vasculaire (génétique), Syndrome.
- MESH :
- anatomopathologie : Lymphoedème.
- diagnostic : Anasarque foeto-placentaire, Communications interventriculaires, Lymphoedème.
- génétique : Facteurs de transcription, Facteurs de transcription Forkhead, Protéines HMG, Récepteur-3 au facteur croissance endothéliale vasculaire.
- Enfant d'âge préscolaire, Faciès, Facteurs de transcription SOX-F, Femelle, Humains, Lymphoedème, Phénotype, Syndrome.
English descriptors
- KwdEn :
- Child, Preschool, Facies, Female, Forkhead Transcription Factors (genetics), Heart Septal Defects, Ventricular (diagnosis), High Mobility Group Proteins (genetics), Humans, Hydrops Fetalis (diagnosis), Lymphedema (congenital), Lymphedema (diagnosis), Lymphedema (pathology), Phenotype, SOXF Transcription Factors, Syndrome, Transcription Factors (genetics), Vascular Endothelial Growth Factor Receptor-3 (genetics).
- MESH :
- chemical , genetics : Forkhead Transcription Factors, High Mobility Group Proteins, Transcription Factors, Vascular Endothelial Growth Factor Receptor-3.
- congenital : Lymphedema.
- diagnosis : Heart Septal Defects, Ventricular, Hydrops Fetalis, Lymphedema.
- pathology : Lymphedema.
- Child, Preschool, Facies, Female, Humans, Phenotype, SOXF Transcription Factors, Syndrome.
Abstract
We describe a Dutch girl with fetal hydrops, congenital lymphedema of the lower legs, complex congenital cardiac malformation, and a typical face with epicanthal folds. This particular combination of symptoms has been previously described by Irons and Bianchi in 1996. Our report confirms their observation and suggests that this particular constellation of symptoms may constitute a new syndrome. Molecular analysis confirms this statement by demonstrating absence of mutations in several genes known to be involved in syndromes with lymphedema.
DOI: 10.1002/ajmg.a.31949
PubMed: 17853470
Links toward previous steps (curation, corpus...)
- to stream PubMed, to step Corpus: Pour aller vers cette notice dans l'étape Curation :003525
- to stream PubMed, to step Curation: Pour aller vers cette notice dans l'étape Curation :003525
- to stream PubMed, to step Checkpoint: Pour aller vers cette notice dans l'étape Curation :003525
- to stream Ncbi, to step Merge: Pour aller vers cette notice dans l'étape Curation :002899
Links to Exploration step
pubmed:17853470Le document en format XML
<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Lymphedema, cardiac septal defects, and characteristic facies: possible new case of Irons-Bianchi syndrome.</title>
<author><name sortKey="Van Steensel, M A M" sort="Van Steensel, M A M" uniqKey="Van Steensel M" first="M A M" last="Van Steensel">M A M. Van Steensel</name>
<affiliation wicri:level="1"><nlm:affiliation>Department of Dermatology, University Hospital Maastricht, Maastricht, The Netherlands. mvst@sder.azm.nl</nlm:affiliation>
<country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea>Department of Dermatology, University Hospital Maastricht, Maastricht</wicri:regionArea>
<wicri:noRegion>Maastricht</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Van Geel, M" sort="Van Geel, M" uniqKey="Van Geel M" first="M" last="Van Geel">M. Van Geel</name>
</author>
<author><name sortKey="Schrander Stumpel, C" sort="Schrander Stumpel, C" uniqKey="Schrander Stumpel C" first="C" last="Schrander-Stumpel">C. Schrander-Stumpel</name>
</author>
<author><name sortKey="Steijlen, P M" sort="Steijlen, P M" uniqKey="Steijlen P" first="P M" last="Steijlen">P M Steijlen</name>
</author>
<author><name sortKey="Veraart, J C J M" sort="Veraart, J C J M" uniqKey="Veraart J" first="J C J M" last="Veraart">J C J M. Veraart</name>
</author>
</titleStmt>
<publicationStmt><idno type="wicri:source">PubMed</idno>
<date when="2007">2007</date>
<idno type="RBID">pubmed:17853470</idno>
<idno type="pmid">17853470</idno>
<idno type="doi">10.1002/ajmg.a.31949</idno>
<idno type="wicri:Area/PubMed/Corpus">003525</idno>
<idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Corpus" wicri:corpus="PubMed">003525</idno>
<idno type="wicri:Area/PubMed/Curation">003525</idno>
<idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Curation">003525</idno>
<idno type="wicri:Area/PubMed/Checkpoint">003525</idno>
<idno type="wicri:explorRef" wicri:stream="Checkpoint" wicri:step="PubMed">003525</idno>
<idno type="wicri:Area/Ncbi/Merge">002899</idno>
<idno type="wicri:Area/Ncbi/Curation">002899</idno>
</publicationStmt>
<sourceDesc><biblStruct><analytic><title xml:lang="en">Lymphedema, cardiac septal defects, and characteristic facies: possible new case of Irons-Bianchi syndrome.</title>
<author><name sortKey="Van Steensel, M A M" sort="Van Steensel, M A M" uniqKey="Van Steensel M" first="M A M" last="Van Steensel">M A M. Van Steensel</name>
<affiliation wicri:level="1"><nlm:affiliation>Department of Dermatology, University Hospital Maastricht, Maastricht, The Netherlands. mvst@sder.azm.nl</nlm:affiliation>
<country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea>Department of Dermatology, University Hospital Maastricht, Maastricht</wicri:regionArea>
<wicri:noRegion>Maastricht</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Van Geel, M" sort="Van Geel, M" uniqKey="Van Geel M" first="M" last="Van Geel">M. Van Geel</name>
</author>
<author><name sortKey="Schrander Stumpel, C" sort="Schrander Stumpel, C" uniqKey="Schrander Stumpel C" first="C" last="Schrander-Stumpel">C. Schrander-Stumpel</name>
</author>
<author><name sortKey="Steijlen, P M" sort="Steijlen, P M" uniqKey="Steijlen P" first="P M" last="Steijlen">P M Steijlen</name>
</author>
<author><name sortKey="Veraart, J C J M" sort="Veraart, J C J M" uniqKey="Veraart J" first="J C J M" last="Veraart">J C J M. Veraart</name>
</author>
</analytic>
<series><title level="j">American journal of medical genetics. Part A</title>
<idno type="ISSN">1552-4825</idno>
<imprint><date when="2007" type="published">2007</date>
</imprint>
</series>
</biblStruct>
</sourceDesc>
</fileDesc>
<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Child, Preschool</term>
<term>Facies</term>
<term>Female</term>
<term>Forkhead Transcription Factors (genetics)</term>
<term>Heart Septal Defects, Ventricular (diagnosis)</term>
<term>High Mobility Group Proteins (genetics)</term>
<term>Humans</term>
<term>Hydrops Fetalis (diagnosis)</term>
<term>Lymphedema (congenital)</term>
<term>Lymphedema (diagnosis)</term>
<term>Lymphedema (pathology)</term>
<term>Phenotype</term>
<term>SOXF Transcription Factors</term>
<term>Syndrome</term>
<term>Transcription Factors (genetics)</term>
<term>Vascular Endothelial Growth Factor Receptor-3 (genetics)</term>
</keywords>
<keywords scheme="KwdFr" xml:lang="fr"><term>Anasarque foeto-placentaire (diagnostic)</term>
<term>Communications interventriculaires (diagnostic)</term>
<term>Enfant d'âge préscolaire</term>
<term>Faciès</term>
<term>Facteurs de transcription (génétique)</term>
<term>Facteurs de transcription Forkhead (génétique)</term>
<term>Facteurs de transcription SOX-F</term>
<term>Femelle</term>
<term>Humains</term>
<term>Lymphoedème ()</term>
<term>Lymphoedème (anatomopathologie)</term>
<term>Lymphoedème (diagnostic)</term>
<term>Phénotype</term>
<term>Protéines HMG (génétique)</term>
<term>Récepteur-3 au facteur croissance endothéliale vasculaire (génétique)</term>
<term>Syndrome</term>
</keywords>
<keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Forkhead Transcription Factors</term>
<term>High Mobility Group Proteins</term>
<term>Transcription Factors</term>
<term>Vascular Endothelial Growth Factor Receptor-3</term>
</keywords>
<keywords scheme="MESH" qualifier="anatomopathologie" xml:lang="fr"><term>Lymphoedème</term>
</keywords>
<keywords scheme="MESH" qualifier="congenital" xml:lang="en"><term>Lymphedema</term>
</keywords>
<keywords scheme="MESH" qualifier="diagnosis" xml:lang="en"><term>Heart Septal Defects, Ventricular</term>
<term>Hydrops Fetalis</term>
<term>Lymphedema</term>
</keywords>
<keywords scheme="MESH" qualifier="diagnostic" xml:lang="fr"><term>Anasarque foeto-placentaire</term>
<term>Communications interventriculaires</term>
<term>Lymphoedème</term>
</keywords>
<keywords scheme="MESH" qualifier="génétique" xml:lang="fr"><term>Facteurs de transcription</term>
<term>Facteurs de transcription Forkhead</term>
<term>Protéines HMG</term>
<term>Récepteur-3 au facteur croissance endothéliale vasculaire</term>
</keywords>
<keywords scheme="MESH" qualifier="pathology" xml:lang="en"><term>Lymphedema</term>
</keywords>
<keywords scheme="MESH" xml:lang="en"><term>Child, Preschool</term>
<term>Facies</term>
<term>Female</term>
<term>Humans</term>
<term>Phenotype</term>
<term>SOXF Transcription Factors</term>
<term>Syndrome</term>
</keywords>
<keywords scheme="MESH" xml:lang="fr"><term>Enfant d'âge préscolaire</term>
<term>Faciès</term>
<term>Facteurs de transcription SOX-F</term>
<term>Femelle</term>
<term>Humains</term>
<term>Lymphoedème</term>
<term>Phénotype</term>
<term>Syndrome</term>
</keywords>
</textClass>
</profileDesc>
</teiHeader>
<front><div type="abstract" xml:lang="en">We describe a Dutch girl with fetal hydrops, congenital lymphedema of the lower legs, complex congenital cardiac malformation, and a typical face with epicanthal folds. This particular combination of symptoms has been previously described by Irons and Bianchi in 1996. Our report confirms their observation and suggests that this particular constellation of symptoms may constitute a new syndrome. Molecular analysis confirms this statement by demonstrating absence of mutations in several genes known to be involved in syndromes with lymphedema.</div>
</front>
</TEI>
</record>
Pour manipuler ce document sous Unix (Dilib)
EXPLOR_STEP=$WICRI_ROOT/Wicri/Sante/explor/LymphedemaV1/Data/Ncbi/Curation
HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 002899 | SxmlIndent | more
Ou
HfdSelect -h $EXPLOR_AREA/Data/Ncbi/Curation/biblio.hfd -nk 002899 | SxmlIndent | more
Pour mettre un lien sur cette page dans le réseau Wicri
{{Explor lien |wiki= Wicri/Sante |area= LymphedemaV1 |flux= Ncbi |étape= Curation |type= RBID |clé= pubmed:17853470 |texte= Lymphedema, cardiac septal defects, and characteristic facies: possible new case of Irons-Bianchi syndrome. }}
Pour générer des pages wiki
HfdIndexSelect -h $EXPLOR_AREA/Data/Ncbi/Curation/RBID.i -Sk "pubmed:17853470" \ | HfdSelect -Kh $EXPLOR_AREA/Data/Ncbi/Curation/biblio.hfd \ | NlmPubMed2Wicri -a LymphedemaV1
This area was generated with Dilib version V0.6.31. |