LymphedemaV1, PubMed, Curation, bibRecord, 005786

A sibship with a neuronal migration defect, cerebellar hypoplasia and congenital lymphedema.

Identifieur interne : 005786 ( PubMed/Curation ); précédent : 005785; suivant : 005787

A sibship with a neuronal migration defect, cerebellar hypoplasia and congenital lymphedema.

Auteurs : J O Hourihane [Royaume-Uni] ; C P Bennett ; R. Chaudhuri ; S A Robb ; N D Martin

Source :

Neuropediatrics [ 0174-304X ] ; 1993.

RBID : pubmed:7682675

Descripteurs français

KwdFr :
- Cervelet (imagerie diagnostique), Cervelet (malformations), Consanguinité, Cortex cérébral (imagerie diagnostique), Cortex cérébral (malformations), Encéphale (imagerie diagnostique), Enfant d'âge préscolaire, Humains, Imagerie par résonance magnétique, Incapacités de développement (étiologie), Inhibition de la migration cellulaire, Lymphoedème (), Lymphoedème (diagnostic), Mâle, Pedigree, Potentiels évoqués visuels, Radiographie, Électroencéphalographie.
MESH :
- diagnostic : Lymphoedème.
- imagerie diagnostique : Cervelet, Cortex cérébral, Encéphale.
- malformations : Cervelet, Cortex cérébral.
- étiologie : Incapacités de développement.
- Consanguinité, Enfant d'âge préscolaire, Humains, Imagerie par résonance magnétique, Inhibition de la migration cellulaire, Lymphoedème, Mâle, Pedigree, Potentiels évoqués visuels, Radiographie, Électroencéphalographie.

English descriptors

KwdEn :
- Brain (diagnostic imaging), Cell Migration Inhibition, Cerebellum (abnormalities), Cerebellum (diagnostic imaging), Cerebral Cortex (abnormalities), Cerebral Cortex (diagnostic imaging), Child, Preschool, Consanguinity, Developmental Disabilities (etiology), Electroencephalography, Evoked Potentials, Visual, Humans, Lymphedema (congenital), Lymphedema (diagnosis), Magnetic Resonance Imaging, Male, Pedigree, Radiography.
MESH :
- abnormalities : Cerebellum, Cerebral Cortex.
- congenital : Lymphedema.
- diagnosis : Lymphedema.
- diagnostic imaging : Brain, Cerebellum, Cerebral Cortex.
- etiology : Developmental Disabilities.
- Cell Migration Inhibition, Child, Preschool, Consanguinity, Electroencephalography, Evoked Potentials, Visual, Humans, Magnetic Resonance Imaging, Male, Pedigree, Radiography.

Abstract

We describe a sibship of three males, including monozygous twins, with cerebral and cerebellar malformations and congenital lymphedema. The parents of these children are related, being half second cousins. The clinical, radiologic and histopathologic features do not fit a previously recognized pattern. We feel this sibship represents a syndrome that has not been previously described, though it closely resembles the Walker Warburg syndrome.

DOI: 10.1055/s-2008-1071511
PubMed: 7682675

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Le document en format XML

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<author><name sortKey="Hourihane, J O" sort="Hourihane, J O" uniqKey="Hourihane J" first="J O" last="Hourihane">J O Hourihane</name>
<affiliation wicri:level="2"><nlm:affiliation>Department of Pediatrics, Kent, England.</nlm:affiliation>
<country>Royaume-Uni</country>
<placeName><region type="country">Angleterre</region>
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</author>
<author><name sortKey="Bennett, C P" sort="Bennett, C P" uniqKey="Bennett C" first="C P" last="Bennett">C P Bennett</name>
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<author><name sortKey="Chaudhuri, R" sort="Chaudhuri, R" uniqKey="Chaudhuri R" first="R" last="Chaudhuri">R. Chaudhuri</name>
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<author><name sortKey="Robb, S A" sort="Robb, S A" uniqKey="Robb S" first="S A" last="Robb">S A Robb</name>
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<author><name sortKey="Martin, N D" sort="Martin, N D" uniqKey="Martin N" first="N D" last="Martin">N D Martin</name>
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<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Brain (diagnostic imaging)</term>
<term>Cell Migration Inhibition</term>
<term>Cerebellum (abnormalities)</term>
<term>Cerebellum (diagnostic imaging)</term>
<term>Cerebral Cortex (abnormalities)</term>
<term>Cerebral Cortex (diagnostic imaging)</term>
<term>Child, Preschool</term>
<term>Consanguinity</term>
<term>Developmental Disabilities (etiology)</term>
<term>Electroencephalography</term>
<term>Evoked Potentials, Visual</term>
<term>Humans</term>
<term>Lymphedema (congenital)</term>
<term>Lymphedema (diagnosis)</term>
<term>Magnetic Resonance Imaging</term>
<term>Male</term>
<term>Pedigree</term>
<term>Radiography</term>
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<keywords scheme="KwdFr" xml:lang="fr"><term>Cervelet (imagerie diagnostique)</term>
<term>Cervelet (malformations)</term>
<term>Consanguinité</term>
<term>Cortex cérébral (imagerie diagnostique)</term>
<term>Cortex cérébral (malformations)</term>
<term>Encéphale (imagerie diagnostique)</term>
<term>Enfant d'âge préscolaire</term>
<term>Humains</term>
<term>Imagerie par résonance magnétique</term>
<term>Incapacités de développement (étiologie)</term>
<term>Inhibition de la migration cellulaire</term>
<term>Lymphoedème ()</term>
<term>Lymphoedème (diagnostic)</term>
<term>Mâle</term>
<term>Pedigree</term>
<term>Potentiels évoqués visuels</term>
<term>Radiographie</term>
<term>Électroencéphalographie</term>
</keywords>
<keywords scheme="MESH" qualifier="abnormalities" xml:lang="en"><term>Cerebellum</term>
<term>Cerebral Cortex</term>
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<keywords scheme="MESH" qualifier="congenital" xml:lang="en"><term>Lymphedema</term>
</keywords>
<keywords scheme="MESH" qualifier="diagnosis" xml:lang="en"><term>Lymphedema</term>
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<keywords scheme="MESH" qualifier="diagnostic" xml:lang="fr"><term>Lymphoedème</term>
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<keywords scheme="MESH" qualifier="diagnostic imaging" xml:lang="en"><term>Brain</term>
<term>Cerebellum</term>
<term>Cerebral Cortex</term>
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<keywords scheme="MESH" qualifier="imagerie diagnostique" xml:lang="fr"><term>Cervelet</term>
<term>Cortex cérébral</term>
<term>Encéphale</term>
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<term>Child, Preschool</term>
<term>Consanguinity</term>
<term>Electroencephalography</term>
<term>Evoked Potentials, Visual</term>
<term>Humans</term>
<term>Magnetic Resonance Imaging</term>
<term>Male</term>
<term>Pedigree</term>
<term>Radiography</term>
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<term>Enfant d'âge préscolaire</term>
<term>Humains</term>
<term>Imagerie par résonance magnétique</term>
<term>Inhibition de la migration cellulaire</term>
<term>Lymphoedème</term>
<term>Mâle</term>
<term>Pedigree</term>
<term>Potentiels évoqués visuels</term>
<term>Radiographie</term>
<term>Électroencéphalographie</term>
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<front><div type="abstract" xml:lang="en">We describe a sibship of three males, including monozygous twins, with cerebral and cerebellar malformations and congenital lymphedema. The parents of these children are related, being half second cousins. The clinical, radiologic and histopathologic features do not fit a previously recognized pattern. We feel this sibship represents a syndrome that has not been previously described, though it closely resembles the Walker Warburg syndrome.</div>
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A sibship with a neuronal migration defect, cerebellar hypoplasia and congenital lymphedema.

A sibship with a neuronal migration defect, cerebellar hypoplasia and congenital lymphedema.

Source :

Descripteurs français

English descriptors

Abstract

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

Links to Exploration step

Le document en format XML

Pour manipuler ce document sous Unix (Dilib)

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Pour générer des pages wiki