Primary lymphedema with coarctation of the aorta: Possible new syndrome or variant of Irons–Bianchi syndrome?
Identifieur interne : 005247 ( Main/Exploration ); précédent : 005246; suivant : 005248Primary lymphedema with coarctation of the aorta: Possible new syndrome or variant of Irons–Bianchi syndrome?
Auteurs : John S. Ferguson [Royaume-Uni] ; Shymalar Gunatheesan [Royaume-Uni] ; Glen Brice [Royaume-Uni] ; Rob Hastings [Royaume-Uni] ; Ruth Newbury-Ecob [Royaume-Uni] ; Peter S. Mortimer [Royaume-Uni] ; Sahar Mansour [Royaume-Uni]Source :
- American Journal of Medical Genetics Part A [ 1552-4825 ] ; 2011-11.
Descripteurs français
- KwdFr :
- Chromosomes humains de la paire 15 (génétique), Chromosomes humains de la paire 5 (génétique), Coarctation aortique (anatomopathologie), Coarctation aortique (diagnostic), Délétion de segment de chromosome, Dépistage génétique, Enfant, Enfant d'âge préscolaire, Femelle, Humains, Lymphoedème (), Lymphoedème (anatomopathologie), Lymphoedème (diagnostic), Lymphoedème (génétique), Lymphoscintigraphie, Mâle, Nouveau-né, Syndrome de Noonan (génétique), Troubles de l'apprentissage (génétique), Variations de nombre de copies de segment d'ADN.
- MESH :
- anatomopathologie : Coarctation aortique, Lymphoedème.
- diagnostic : Coarctation aortique, Lymphoedème.
- génétique : Chromosomes humains de la paire 15, Chromosomes humains de la paire 5, Lymphoedème, Syndrome de Noonan, Troubles de l'apprentissage.
- Délétion de segment de chromosome, Dépistage génétique, Enfant, Enfant d'âge préscolaire, Femelle, Humains, Lymphoedème, Lymphoscintigraphie, Mâle, Nouveau-né, Variations de nombre de copies de segment d'ADN.
- Pascal (Inist)
- Wicri :
- topic : Fer.
English descriptors
- KwdEn :
- Aortic Coarctation (diagnosis), Aortic Coarctation (pathology), Aortic coarctation, Child, Child, Preschool, Chromosome Deletion, Chromosomes, Human, Pair 15 (genetics), Chromosomes, Human, Pair 5 (genetics), Congenital cardiopathy, DNA Copy Number Variations, Female, Genetic Testing, Humans, Infant, Newborn, Iron, Learning Disorders (genetics), Lymphedema, Lymphedema (congenital), Lymphedema (diagnosis), Lymphedema (genetics), Lymphedema (pathology), Lymphoscintigraphy, Male, Noonan Syndrome (genetics), Variant.
- MESH :
- congenital : Lymphedema.
- diagnosis : Aortic Coarctation, Lymphedema.
- genetics : Chromosomes, Human, Pair 15, Chromosomes, Human, Pair 5, Learning Disorders, Lymphedema, Noonan Syndrome.
- pathology : Aortic Coarctation, Lymphedema.
- Child, Child, Preschool, Chromosome Deletion, DNA Copy Number Variations, Female, Genetic Testing, Humans, Infant, Newborn, Lymphoscintigraphy, Male.
Abstract
We present a boy with congenital lymphedema, a congenital heart defect (coarctation of the aorta), and mild dysmorphic features. Clinical impression and targeted investigations ruled out Noonan syndrome and Milroy syndrome, but it was not clear whether or not he had Irons–Bianchi syndrome. We discuss the genomic and lymphoscintigraphy evaluation of this case, and review whether the small number of current case reports represent the original Irons–Bianchi syndrome or variants. We anticipate that ongoing molecular investigations such as Next Generation Sequencing will delineate a currently clinically defined phenotypic spectrum. © 2011 Wiley Periodicals, Inc.
Url:
DOI: 10.1002/ajmg.a.34188
Affiliations:
Links toward previous steps (curation, corpus...)
- to stream Istex, to step Corpus: 003780
- to stream Istex, to step Curation: 003780
- to stream Istex, to step Checkpoint: 000679
- to stream PubMed, to step Corpus: 002449
- to stream PubMed, to step Curation: 002449
- to stream PubMed, to step Checkpoint: 002449
- to stream Ncbi, to step Merge: 004700
- to stream Ncbi, to step Curation: 004700
- to stream Ncbi, to step Checkpoint: 004700
- to stream Main, to step Merge: 005286
- to stream PascalFrancis, to step Corpus: 000144
- to stream PascalFrancis, to step Curation: 000814
- to stream PascalFrancis, to step Checkpoint: 000149
- to stream Main, to step Merge: 005471
- to stream Main, to step Curation: 005247
Le document en format XML
<record><TEI wicri:istexFullTextTei="biblStruct"><teiHeader><fileDesc><titleStmt><title xml:lang="en">Primary lymphedema with coarctation of the aorta: Possible new syndrome or variant of Irons–Bianchi syndrome?</title><author><name sortKey="Ferguson, John S" sort="Ferguson, John S" uniqKey="Ferguson J" first="John S." last="Ferguson">John S. Ferguson</name></author><author><name sortKey="Gunatheesan, Shymalar" sort="Gunatheesan, Shymalar" uniqKey="Gunatheesan S" first="Shymalar" last="Gunatheesan">Shymalar Gunatheesan</name></author><author><name sortKey="Brice, Glen" sort="Brice, Glen" uniqKey="Brice G" first="Glen" last="Brice">Glen Brice</name></author><author><name sortKey="Hastings, Rob" sort="Hastings, Rob" uniqKey="Hastings R" first="Rob" last="Hastings">Rob Hastings</name></author><author><name sortKey="Newbury Cob, Ruth" sort="Newbury Cob, Ruth" uniqKey="Newbury Cob R" first="Ruth" last="Newbury-Ecob">Ruth Newbury-Ecob</name></author><author><name sortKey="Mortimer, Peter S" sort="Mortimer, Peter S" uniqKey="Mortimer P" first="Peter S." last="Mortimer">Peter S. Mortimer</name></author><author><name sortKey="Mansour, Sahar" sort="Mansour, Sahar" uniqKey="Mansour S" first="Sahar" last="Mansour">Sahar Mansour</name></author></titleStmt><publicationStmt><idno type="wicri:source">ISTEX</idno><idno type="RBID">ISTEX:76D85C811A802CDB971A22CB9ED372070B3D7A21</idno><date when="2011" year="2011">2011</date><idno type="doi">10.1002/ajmg.a.34188</idno><idno type="url">https://api.istex.fr/document/76D85C811A802CDB971A22CB9ED372070B3D7A21/fulltext/pdf</idno><idno type="wicri:Area/Istex/Corpus">003780</idno><idno type="wicri:explorRef" wicri:stream="Istex" wicri:step="Corpus" wicri:corpus="ISTEX">003780</idno><idno type="wicri:Area/Istex/Curation">003780</idno><idno type="wicri:Area/Istex/Checkpoint">000679</idno><idno type="wicri:explorRef" wicri:stream="Istex" wicri:step="Checkpoint">000679</idno><idno type="wicri:doubleKey">1552-4825:2011:Ferguson J:primary:lymphedema:with</idno><idno type="wicri:source">PubMed</idno><idno type="RBID">pubmed:21954173</idno><idno type="wicri:Area/PubMed/Corpus">002449</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Corpus" wicri:corpus="PubMed">002449</idno><idno type="wicri:Area/PubMed/Curation">002449</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Curation">002449</idno><idno type="wicri:Area/PubMed/Checkpoint">002449</idno><idno type="wicri:explorRef" wicri:stream="Checkpoint" wicri:step="PubMed">002449</idno><idno type="wicri:Area/Ncbi/Merge">004700</idno><idno type="wicri:Area/Ncbi/Curation">004700</idno><idno type="wicri:Area/Ncbi/Checkpoint">004700</idno><idno type="wicri:Area/Main/Merge">005286</idno><idno type="wicri:source">INIST</idno><idno type="RBID">Pascal:11-0476989</idno><idno type="wicri:Area/PascalFrancis/Corpus">000144</idno><idno type="wicri:Area/PascalFrancis/Curation">000814</idno><idno type="wicri:Area/PascalFrancis/Checkpoint">000149</idno><idno type="wicri:explorRef" wicri:stream="PascalFrancis" wicri:step="Checkpoint">000149</idno><idno type="wicri:doubleKey">1552-4825:2011:Ferguson J:primary:lymphedema:with</idno><idno type="wicri:Area/Main/Merge">005471</idno><idno type="wicri:Area/Main/Curation">005247</idno><idno type="wicri:Area/Main/Exploration">005247</idno></publicationStmt><sourceDesc><biblStruct><analytic><title level="a" type="main" xml:lang="en">Primary lymphedema with coarctation of the aorta: Possible new syndrome or variant of Irons–Bianchi syndrome?<ref type="note" target="#fn1"></ref></title><author><name sortKey="Ferguson, John S" sort="Ferguson, John S" uniqKey="Ferguson J" first="John S." last="Ferguson">John S. Ferguson</name><affiliation wicri:level="3"><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Department of Dermatology, St George's Healthcare NHS Trust, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation><affiliation wicri:level="1"><country xml:lang="fr" wicri:curation="lc">Royaume-Uni</country><wicri:regionArea>St George's Healthcare NHS Trust, Blackshaw Road, Tooting, London SW17 0QT</wicri:regionArea><wicri:noRegion>London SW17 0QT</wicri:noRegion></affiliation></author><author><name sortKey="Gunatheesan, Shymalar" sort="Gunatheesan, Shymalar" uniqKey="Gunatheesan S" first="Shymalar" last="Gunatheesan">Shymalar Gunatheesan</name><affiliation wicri:level="3"><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Department of Dermatology, St George's Healthcare NHS Trust, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author><author><name sortKey="Brice, Glen" sort="Brice, Glen" uniqKey="Brice G" first="Glen" last="Brice">Glen Brice</name><affiliation wicri:level="3"><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>SW Thames Regional Genetics Unit, St George's Healthcare NHS Trust, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author><author><name sortKey="Hastings, Rob" sort="Hastings, Rob" uniqKey="Hastings R" first="Rob" last="Hastings">Rob Hastings</name><affiliation wicri:level="1"><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Department of Clinical Genetics, University Hospitals Bristol NHS Foundation Trust, Bristol</wicri:regionArea><wicri:noRegion>Bristol</wicri:noRegion></affiliation></author><author><name sortKey="Newbury Cob, Ruth" sort="Newbury Cob, Ruth" uniqKey="Newbury Cob R" first="Ruth" last="Newbury-Ecob">Ruth Newbury-Ecob</name><affiliation wicri:level="1"><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Department of Clinical Genetics, University Hospitals Bristol NHS Foundation Trust, Bristol</wicri:regionArea><wicri:noRegion>Bristol</wicri:noRegion></affiliation></author><author><name sortKey="Mortimer, Peter S" sort="Mortimer, Peter S" uniqKey="Mortimer P" first="Peter S." last="Mortimer">Peter S. Mortimer</name><affiliation wicri:level="3"><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Department of Dermatology, St George's Healthcare NHS Trust, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author><author><name sortKey="Mansour, Sahar" sort="Mansour, Sahar" uniqKey="Mansour S" first="Sahar" last="Mansour">Sahar Mansour</name><affiliation wicri:level="3"><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>SW Thames Regional Genetics Unit, St George's Healthcare NHS Trust, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author></analytic><monogr></monogr><series><title level="j" type="main">American Journal of Medical Genetics Part A</title><title level="j" type="alt">AMERICAN JOURNAL OF MEDICAL GENETICS</title><idno type="ISSN">1552-4825</idno><idno type="eISSN">1552-4833</idno><imprint><biblScope unit="vol">155</biblScope><biblScope unit="issue">11</biblScope><biblScope unit="page" from="2762">2762</biblScope><biblScope unit="page" to="2765">2765</biblScope><biblScope unit="page-count">4</biblScope><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>Hoboken</pubPlace><date type="published" when="2011-11">2011-11</date></imprint><idno type="ISSN">1552-4825</idno></series></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">1552-4825</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Aortic Coarctation (diagnosis)</term><term>Aortic Coarctation (pathology)</term><term>Aortic coarctation</term><term>Child</term><term>Child, Preschool</term><term>Chromosome Deletion</term><term>Chromosomes, Human, Pair 15 (genetics)</term><term>Chromosomes, Human, Pair 5 (genetics)</term><term>Congenital cardiopathy</term><term>DNA Copy Number Variations</term><term>Female</term><term>Genetic Testing</term><term>Humans</term><term>Infant, Newborn</term><term>Iron</term><term>Learning Disorders (genetics)</term><term>Lymphedema</term><term>Lymphedema (congenital)</term><term>Lymphedema (diagnosis)</term><term>Lymphedema (genetics)</term><term>Lymphedema (pathology)</term><term>Lymphoscintigraphy</term><term>Male</term><term>Noonan Syndrome (genetics)</term><term>Variant</term></keywords><keywords scheme="KwdFr" xml:lang="fr"><term>Chromosomes humains de la paire 15 (génétique)</term><term>Chromosomes humains de la paire 5 (génétique)</term><term>Coarctation aortique (anatomopathologie)</term><term>Coarctation aortique (diagnostic)</term><term>Délétion de segment de chromosome</term><term>Dépistage génétique</term><term>Enfant</term><term>Enfant d'âge préscolaire</term><term>Femelle</term><term>Humains</term><term>Lymphoedème ()</term><term>Lymphoedème (anatomopathologie)</term><term>Lymphoedème (diagnostic)</term><term>Lymphoedème (génétique)</term><term>Lymphoscintigraphie</term><term>Mâle</term><term>Nouveau-né</term><term>Syndrome de Noonan (génétique)</term><term>Troubles de l'apprentissage (génétique)</term><term>Variations de nombre de copies de segment d'ADN</term></keywords><keywords scheme="MESH" qualifier="anatomopathologie" xml:lang="fr"><term>Coarctation aortique</term><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>Aortic Coarctation</term><term>Lymphedema</term></keywords><keywords scheme="MESH" qualifier="diagnostic" xml:lang="fr"><term>Coarctation aortique</term><term>Lymphoedème</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Chromosomes, Human, Pair 15</term><term>Chromosomes, Human, Pair 5</term><term>Learning Disorders</term><term>Lymphedema</term><term>Noonan Syndrome</term></keywords><keywords scheme="MESH" qualifier="génétique" xml:lang="fr"><term>Chromosomes humains de la paire 15</term><term>Chromosomes humains de la paire 5</term><term>Lymphoedème</term><term>Syndrome de Noonan</term><term>Troubles de l'apprentissage</term></keywords><keywords scheme="MESH" qualifier="pathology" xml:lang="en"><term>Aortic Coarctation</term><term>Lymphedema</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Child</term><term>Child, Preschool</term><term>Chromosome Deletion</term><term>DNA Copy Number Variations</term><term>Female</term><term>Genetic Testing</term><term>Humans</term><term>Infant, Newborn</term><term>Lymphoscintigraphy</term><term>Male</term></keywords><keywords scheme="MESH" xml:lang="fr"><term>Délétion de segment de chromosome</term><term>Dépistage génétique</term><term>Enfant</term><term>Enfant d'âge préscolaire</term><term>Femelle</term><term>Humains</term><term>Lymphoedème</term><term>Lymphoscintigraphie</term><term>Mâle</term><term>Nouveau-né</term><term>Variations de nombre de copies de segment d'ADN</term></keywords><keywords scheme="Pascal" xml:lang="fr"><term>Cardiopathie congénitale</term><term>Coarctation aortique</term><term>Fer</term><term>Lymphoedème</term><term>Variant</term></keywords><keywords scheme="Wicri" type="topic" xml:lang="fr"><term>Fer</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">We present a boy with congenital lymphedema, a congenital heart defect (coarctation of the aorta), and mild dysmorphic features. Clinical impression and targeted investigations ruled out Noonan syndrome and Milroy syndrome, but it was not clear whether or not he had Irons–Bianchi syndrome. We discuss the genomic and lymphoscintigraphy evaluation of this case, and review whether the small number of current case reports represent the original Irons–Bianchi syndrome or variants. We anticipate that ongoing molecular investigations such as Next Generation Sequencing will delineate a currently clinically defined phenotypic spectrum. © 2011 Wiley Periodicals, Inc.</div></front></TEI><affiliations><list><country><li>Royaume-Uni</li></country><region><li>Angleterre</li><li>Grand Londres</li></region><settlement><li>Londres</li></settlement></list><tree><country name="Royaume-Uni"><region name="Angleterre"><name sortKey="Ferguson, John S" sort="Ferguson, John S" uniqKey="Ferguson J" first="John S." last="Ferguson">John S. Ferguson</name></region><name sortKey="Brice, Glen" sort="Brice, Glen" uniqKey="Brice G" first="Glen" last="Brice">Glen Brice</name><name sortKey="Ferguson, John S" sort="Ferguson, John S" uniqKey="Ferguson J" first="John S." last="Ferguson">John S. Ferguson</name><name sortKey="Gunatheesan, Shymalar" sort="Gunatheesan, Shymalar" uniqKey="Gunatheesan S" first="Shymalar" last="Gunatheesan">Shymalar Gunatheesan</name><name sortKey="Hastings, Rob" sort="Hastings, Rob" uniqKey="Hastings R" first="Rob" last="Hastings">Rob Hastings</name><name sortKey="Mansour, Sahar" sort="Mansour, Sahar" uniqKey="Mansour S" first="Sahar" last="Mansour">Sahar Mansour</name><name sortKey="Mortimer, Peter S" sort="Mortimer, Peter S" uniqKey="Mortimer P" first="Peter S." last="Mortimer">Peter S. Mortimer</name><name sortKey="Newbury Cob, Ruth" sort="Newbury Cob, Ruth" uniqKey="Newbury Cob R" first="Ruth" last="Newbury-Ecob">Ruth Newbury-Ecob</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
EXPLOR_STEP=$WICRI_ROOT/Wicri/Sante/explor/LymphedemaV1/Data/Main/Exploration
HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 005247 | SxmlIndent | more
Ou
HfdSelect -h $EXPLOR_AREA/Data/Main/Exploration/biblio.hfd -nk 005247 | SxmlIndent | more
Pour mettre un lien sur cette page dans le réseau Wicri
{{Explor lien
|wiki= Wicri/Sante
|area= LymphedemaV1
|flux= Main
|étape= Exploration
|type= RBID
|clé= ISTEX:76D85C811A802CDB971A22CB9ED372070B3D7A21
|texte= Primary lymphedema with coarctation of the aorta: Possible new syndrome or variant of Irons–Bianchi syndrome?
}}
| This area was generated with Dilib version V0.6.31. |  |