A sibship with a neuronal migration defect, cerebellar hypoplasia and congenital lymphedema.
Identifieur interne : 005786 ( PubMed/Curation ); précédent : 005785; suivant : 005787A 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 MartinSource :
- Neuropediatrics [ 0174-304X ] ; 1993.
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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pubmed:7682675Le document en format XML
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<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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<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>
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<term>Developmental Disabilities (etiology)</term>
<term>Electroencephalography</term>
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<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>
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<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>
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<term>Inhibition de la migration cellulaire</term>
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<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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