LymphedemaV1, Main, Exploration, bibRecord, 005E07

Agenesis of the corpus callosum and congenital lymphedema: A novel recognizable syndrome?

Identifieur interne : 005E07 ( Main/Exploration ); précédent : 005E06; suivant : 005E08

Agenesis of the corpus callosum and congenital lymphedema: A novel recognizable syndrome?

Auteurs : Mary C. O'Driscoll [Royaume-Uni] ; Kim Jenny [États-Unis] ; Sulagna Saitta [États-Unis] ; William B. Dobyns [États-Unis] ; Karen W. Gripp [États-Unis]

Source :

American Journal of Medical Genetics Part A [ 1552-4825 ] ; 2010-07.

RBID : ISTEX:9FA4130A03CD75DC6A0883F64B6DEFB504A3C5B6

Descripteurs français

KwdFr :
- Agénésie du corps calleux, Enfant d'âge préscolaire, Faciès, Femelle, Grossesse, Humains, Imagerie par résonance magnétique, Lymphoedème (), Mâle, Nourrisson, Nouveau-né, Syndrome, Syndrome acrocalleux ().
MESH :
- Agénésie du corps calleux, Enfant d'âge préscolaire, Faciès, Femelle, Grossesse, Humains, Imagerie par résonance magnétique, Lymphoedème, Mâle, Nourrisson, Nouveau-né, Syndrome, Syndrome acrocalleux.
Pascal (Inist)
- Agénésie, Congénital, Corps calleux, Lymphoedème, Malformation, Sacrum, Trouble du développement.

English descriptors

KwdEn :
- Acrocallosal Syndrome (complications), Agenesis, Agenesis of Corpus Callosum, Child, Preschool, Congenital, Corpus callosum, Developmental disorder, Facies, Female, Humans, Infant, Infant, Newborn, Lymphedema, Lymphedema (complications), Lymphedema (congenital), Magnetic Resonance Imaging, Male, Malformation, Pregnancy, Sacrum, Syndrome.
MESH :
- complications : Acrocallosal Syndrome, Lymphedema.
- congenital : Lymphedema.
- Agenesis of Corpus Callosum, Child, Preschool, Facies, Female, Humans, Infant, Infant, Newborn, Magnetic Resonance Imaging, Male, Pregnancy, Syndrome.

Abstract

We present double first cousins, a girl and a boy, with the uncommon association of agenesis of the corpus callosum and congenital lymphedema. Other features shared by both include oligohydramnios, similar facial dysmorphism, sacral dimple, developmental delay, and sociable personality. While some of these findings overlap with FG syndrome and Hennekam syndrome, the findings in our patients are sufficiently different to exclude these diagnoses. We propose that this is a new syndrome with presumed autosomal recessive inheritance. © 2010 Wiley‐Liss, Inc.

Url:

https://api.istex.fr/document/9FA4130A03CD75DC6A0883F64B6DEFB504A3C5B6/fulltext/pdf

DOI: 10.1002/ajmg.a.33200

Affiliations:

Le document en format XML

<record><TEI wicri:istexFullTextTei="biblStruct"><teiHeader><fileDesc><titleStmt><title xml:lang="en">Agenesis of the corpus callosum and congenital lymphedema: A novel recognizable syndrome?</title>
<author><name sortKey="O Driscoll, Mary C" sort="O Driscoll, Mary C" uniqKey="O Driscoll M" first="Mary C." last="O'Driscoll">Mary C. O'Driscoll</name>
</author>
<author><name sortKey="Jenny, Kim" sort="Jenny, Kim" uniqKey="Jenny K" first="Kim" last="Jenny">Kim Jenny</name>
</author>
<author><name sortKey="Saitta, Sulagna" sort="Saitta, Sulagna" uniqKey="Saitta S" first="Sulagna" last="Saitta">Sulagna Saitta</name>
</author>
<author><name sortKey="Dobyns, William B" sort="Dobyns, William B" uniqKey="Dobyns W" first="William B." last="Dobyns">William B. Dobyns</name>
</author>
<author><name sortKey="Gripp, Karen W" sort="Gripp, Karen W" uniqKey="Gripp K" first="Karen W." last="Gripp">Karen W. Gripp</name>
</author>
</titleStmt>
<publicationStmt><idno type="wicri:source">ISTEX</idno>
<idno type="RBID">ISTEX:9FA4130A03CD75DC6A0883F64B6DEFB504A3C5B6</idno>
<date when="2010" year="2010">2010</date>
<idno type="doi">10.1002/ajmg.a.33200</idno>
<idno type="url">https://api.istex.fr/document/9FA4130A03CD75DC6A0883F64B6DEFB504A3C5B6/fulltext/pdf</idno>
<idno type="wicri:Area/Istex/Corpus">004B10</idno>
<idno type="wicri:explorRef" wicri:stream="Istex" wicri:step="Corpus" wicri:corpus="ISTEX">004B10</idno>
<idno type="wicri:Area/Istex/Curation">004B10</idno>
<idno type="wicri:Area/Istex/Checkpoint">000B51</idno>
<idno type="wicri:explorRef" wicri:stream="Istex" wicri:step="Checkpoint">000B51</idno>
<idno type="wicri:doubleKey">1552-4825:2010:O Driscoll M:agenesis:of:the</idno>
<idno type="wicri:source">PubMed</idno>
<idno type="RBID">pubmed:20583147</idno>
<idno type="wicri:Area/PubMed/Corpus">002A12</idno>
<idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Corpus" wicri:corpus="PubMed">002A12</idno>
<idno type="wicri:Area/PubMed/Curation">002A12</idno>
<idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Curation">002A12</idno>
<idno type="wicri:Area/PubMed/Checkpoint">002A12</idno>
<idno type="wicri:explorRef" wicri:stream="Checkpoint" wicri:step="PubMed">002A12</idno>
<idno type="wicri:Area/Ncbi/Merge">003C17</idno>
<idno type="wicri:Area/Ncbi/Curation">003C17</idno>
<idno type="wicri:Area/Ncbi/Checkpoint">003C17</idno>
<idno type="wicri:Area/Main/Merge">005E62</idno>
<idno type="wicri:source">INIST</idno>
<idno type="RBID">Pascal:10-0330939</idno>
<idno type="wicri:Area/PascalFrancis/Corpus">000242</idno>
<idno type="wicri:Area/PascalFrancis/Curation">000716</idno>
<idno type="wicri:Area/PascalFrancis/Checkpoint">000271</idno>
<idno type="wicri:explorRef" wicri:stream="PascalFrancis" wicri:step="Checkpoint">000271</idno>
<idno type="wicri:doubleKey">1552-4825:2010:O Driscoll M:agenesis:of:the</idno>
<idno type="wicri:Area/Main/Merge">005F65</idno>
<idno type="wicri:Area/Main/Curation">005E07</idno>
<idno type="wicri:Area/Main/Exploration">005E07</idno>
</publicationStmt>
<sourceDesc><biblStruct><analytic><title level="a" type="main" xml:lang="en">Agenesis of the corpus callosum and congenital lymphedema: A novel recognizable syndrome?<ref type="note" target="#fn1"></ref>
</title>
<author><name sortKey="O Driscoll, Mary C" sort="O Driscoll, Mary C" uniqKey="O Driscoll M" first="Mary C." last="O'Driscoll">Mary C. O'Driscoll</name>
<affiliation wicri:level="3"><country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>Medical Genetics Research Group and Regional Genetics Service, St Mary's Hospital, Manchester</wicri:regionArea>
<placeName><settlement type="city">Manchester</settlement>
<region type="country">Angleterre</region>
<region type="région" nuts="1">Grand Manchester</region>
</placeName>
</affiliation>
<affiliation wicri:level="4"><country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>Genetic Medicine, Manchester Academic Health Science Centre, University of Manchester, Central Manchester University Hospitals, NHS Foundation Trust, St Mary's Hospital, Oxford Road, Manchester M13 9002</wicri:regionArea>
<orgName type="university">Université de Manchester</orgName>
<placeName><settlement type="city">Manchester</settlement>
<region type="nation">Angleterre</region>
<region nuts="2" type="region">Grand Manchester</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Jenny, Kim" sort="Jenny, Kim" uniqKey="Jenny K" first="Kim" last="Jenny">Kim Jenny</name>
<affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country>
<placeName><region type="state">Delaware</region>
</placeName>
<wicri:cityArea>Division of Medical Genetics, Alfred I. DuPont Hospital for Children, Wilmington</wicri:cityArea>
</affiliation>
</author>
<author><name sortKey="Saitta, Sulagna" sort="Saitta, Sulagna" uniqKey="Saitta S" first="Sulagna" last="Saitta">Sulagna Saitta</name>
<affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country>
<placeName><region type="state">Pennsylvanie</region>
</placeName>
<wicri:cityArea>Clinical Genetics Center, Children's Hospital of Philadelphia, Philadelphia</wicri:cityArea>
</affiliation>
</author>
<author><name sortKey="Dobyns, William B" sort="Dobyns, William B" uniqKey="Dobyns W" first="William B." last="Dobyns">William B. Dobyns</name>
<affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country>
<placeName><region type="state">Illinois</region>
</placeName>
<wicri:cityArea>Departments of Human Genetics, Neurology and Pediatrics, The University of Chicago, Chicago</wicri:cityArea>
</affiliation>
</author>
<author><name sortKey="Gripp, Karen W" sort="Gripp, Karen W" uniqKey="Gripp K" first="Karen W." last="Gripp">Karen W. Gripp</name>
<affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country>
<placeName><region type="state">Delaware</region>
</placeName>
<wicri:cityArea>Division of Medical Genetics, Alfred I. DuPont Hospital for Children, Wilmington</wicri:cityArea>
</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">152A</biblScope>
<biblScope unit="issue">7</biblScope>
<biblScope unit="page" from="1621">1621</biblScope>
<biblScope unit="page" to="1626">1626</biblScope>
<biblScope unit="page-count">6</biblScope>
<publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher>
<pubPlace>Hoboken</pubPlace>
<date type="published" when="2010-07">2010-07</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>Acrocallosal Syndrome (complications)</term>
<term>Agenesis</term>
<term>Agenesis of Corpus Callosum</term>
<term>Child, Preschool</term>
<term>Congenital</term>
<term>Corpus callosum</term>
<term>Developmental disorder</term>
<term>Facies</term>
<term>Female</term>
<term>Humans</term>
<term>Infant</term>
<term>Infant, Newborn</term>
<term>Lymphedema</term>
<term>Lymphedema (complications)</term>
<term>Lymphedema (congenital)</term>
<term>Magnetic Resonance Imaging</term>
<term>Male</term>
<term>Malformation</term>
<term>Pregnancy</term>
<term>Sacrum</term>
<term>Syndrome</term>
</keywords>
<keywords scheme="KwdFr" xml:lang="fr"><term>Agénésie du corps calleux</term>
<term>Enfant d'âge préscolaire</term>
<term>Faciès</term>
<term>Femelle</term>
<term>Grossesse</term>
<term>Humains</term>
<term>Imagerie par résonance magnétique</term>
<term>Lymphoedème ()</term>
<term>Mâle</term>
<term>Nourrisson</term>
<term>Nouveau-né</term>
<term>Syndrome</term>
<term>Syndrome acrocalleux ()</term>
</keywords>
<keywords scheme="MESH" qualifier="complications" xml:lang="en"><term>Acrocallosal Syndrome</term>
<term>Lymphedema</term>
</keywords>
<keywords scheme="MESH" qualifier="congenital" xml:lang="en"><term>Lymphedema</term>
</keywords>
<keywords scheme="MESH" xml:lang="en"><term>Agenesis of Corpus Callosum</term>
<term>Child, Preschool</term>
<term>Facies</term>
<term>Female</term>
<term>Humans</term>
<term>Infant</term>
<term>Infant, Newborn</term>
<term>Magnetic Resonance Imaging</term>
<term>Male</term>
<term>Pregnancy</term>
<term>Syndrome</term>
</keywords>
<keywords scheme="MESH" xml:lang="fr"><term>Agénésie du corps calleux</term>
<term>Enfant d'âge préscolaire</term>
<term>Faciès</term>
<term>Femelle</term>
<term>Grossesse</term>
<term>Humains</term>
<term>Imagerie par résonance magnétique</term>
<term>Lymphoedème</term>
<term>Mâle</term>
<term>Nourrisson</term>
<term>Nouveau-né</term>
<term>Syndrome</term>
<term>Syndrome acrocalleux</term>
</keywords>
<keywords scheme="Pascal" xml:lang="fr"><term>Agénésie</term>
<term>Congénital</term>
<term>Corps calleux</term>
<term>Lymphoedème</term>
<term>Malformation</term>
<term>Sacrum</term>
<term>Trouble du développement</term>
</keywords>
</textClass>
</profileDesc>
</teiHeader>
<front><div type="abstract" xml:lang="en">We present double first cousins, a girl and a boy, with the uncommon association of agenesis of the corpus callosum and congenital lymphedema. Other features shared by both include oligohydramnios, similar facial dysmorphism, sacral dimple, developmental delay, and sociable personality. While some of these findings overlap with FG syndrome and Hennekam syndrome, the findings in our patients are sufficiently different to exclude these diagnoses. We propose that this is a new syndrome with presumed autosomal recessive inheritance. © 2010 Wiley‐Liss, Inc.</div>
</front>
</TEI>
<affiliations><list><country><li>Royaume-Uni</li>
<li>États-Unis</li>
</country>
<region><li>Angleterre</li>
<li>Delaware</li>
<li>Grand Manchester</li>
<li>Illinois</li>
<li>Pennsylvanie</li>
</region>
<settlement><li>Manchester</li>
</settlement>
<orgName><li>Université de Manchester</li>
</orgName>
</list>
<tree><country name="Royaume-Uni"><region name="Angleterre"><name sortKey="O Driscoll, Mary C" sort="O Driscoll, Mary C" uniqKey="O Driscoll M" first="Mary C." last="O'Driscoll">Mary C. O'Driscoll</name>
</region>
<name sortKey="O Driscoll, Mary C" sort="O Driscoll, Mary C" uniqKey="O Driscoll M" first="Mary C." last="O'Driscoll">Mary C. O'Driscoll</name>
</country>
<country name="États-Unis"><region name="Delaware"><name sortKey="Jenny, Kim" sort="Jenny, Kim" uniqKey="Jenny K" first="Kim" last="Jenny">Kim Jenny</name>
</region>
<name sortKey="Dobyns, William B" sort="Dobyns, William B" uniqKey="Dobyns W" first="William B." last="Dobyns">William B. Dobyns</name>
<name sortKey="Gripp, Karen W" sort="Gripp, Karen W" uniqKey="Gripp K" first="Karen W." last="Gripp">Karen W. Gripp</name>
<name sortKey="Saitta, Sulagna" sort="Saitta, Sulagna" uniqKey="Saitta S" first="Sulagna" last="Saitta">Sulagna Saitta</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 005E07 | SxmlIndent | more

HfdSelect -h $EXPLOR_AREA/Data/Main/Exploration/biblio.hfd -nk 005E07 | 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:9FA4130A03CD75DC6A0883F64B6DEFB504A3C5B6
   |texte=   Agenesis of the corpus callosum and congenital lymphedema: A novel recognizable syndrome?
}}

This area was generated with Dilib version V0.6.31.
Data generation: Sat Nov 4 17:40:35 2017. Site generation: Tue Feb 13 16:42:16 2024

Serveur d'exploration sur le lymphœdème

Agenesis of the corpus callosum and congenital lymphedema: A novel recognizable syndrome?

Agenesis of the corpus callosum and congenital lymphedema: A novel recognizable syndrome?

Source :

Descripteurs français

English descriptors

Abstract

Links toward previous steps (curation, corpus...)

Le document en format XML

Pour manipuler ce document sous Unix (Dilib)

Pour mettre un lien sur cette page dans le réseau Wicri

	Serveur d'exploration sur le lymphœdème
	Attention, ce site est en cours de développement ! Attention, site généré par des moyens informatiques à partir de corpus bruts. Les informations ne sont donc pas validées.