LymphedemaV1, Ncbi, Merge, bibRecord, 000242

Two brothers with Hennekam syndrome and cerebral abnormalities.

Identifieur interne : 000242 ( Ncbi/Merge ); précédent : 000241; suivant : 000243

Two brothers with Hennekam syndrome and cerebral abnormalities.

Auteurs : P. Huppke [Allemagne] ; H J Christen ; B. Sattler ; F. Hanefeld

Source :

Clinical dysmorphology [ 0962-8827 ] ; 2000.

RBID : pubmed:10649792

Descripteurs français

KwdFr :
- Biopsie, Déficience intellectuelle (anatomopathologie), Encéphale (malformations), Enfant d'âge préscolaire, Face (malformations), Humains, Imagerie par résonance magnétique, Lymphangiectasie intestinale (anatomopathologie), Lymphoedème (anatomopathologie), Malformations multiples (anatomopathologie), Mâle, Nouveau-né, Syndrome.
MESH :
- anatomopathologie : Déficience intellectuelle, Lymphangiectasie intestinale, Lymphoedème, Malformations multiples.
- malformations : Encéphale, Face.
- Biopsie, Enfant d'âge préscolaire, Humains, Imagerie par résonance magnétique, Mâle, Nouveau-né, Syndrome.

English descriptors

KwdEn :
- Abnormalities, Multiple (pathology), Biopsy, Brain (abnormalities), Child, Preschool, Face (abnormalities), Humans, Infant, Newborn, Intellectual Disability (pathology), Lymphangiectasis, Intestinal (pathology), Lymphedema (pathology), Magnetic Resonance Imaging, Male, Syndrome.
MESH :
- abnormalities : Brain, Face.
- pathology : Abnormalities, Multiple, Intellectual Disability, Lymphangiectasis, Intestinal, Lymphedema.
- Biopsy, Child, Preschool, Humans, Infant, Newborn, Magnetic Resonance Imaging, Male, Syndrome.

Abstract

We report two brothers with mental retardation, lymphoedema of the limbs and facial anomalies. Hennekam et al. (Am J Med Genet 34:593-600; 1989) described four patients with identical signs and intestinal lymphangiectasia. To confirm the diagnosis of Hennekam syndrome we undertook a duodenal biopsy from the older brother which revealed intestinal lymphangiectasia. So far only one patient with Hennekam syndrome and cerebral abnormalities has been described. This patient presented with pachygyria in the parietal area. Cerebral MRI in our two cases revealed small subcortical hyperintensities in both patients and a large cystic lesion in the younger patient probably representing an old media infarction.

PubMed: 10649792

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pubmed:10649792

Le document en format XML

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<author><name sortKey="Huppke, P" sort="Huppke, P" uniqKey="Huppke P" first="P" last="Huppke">P. Huppke</name>
<affiliation wicri:level="4"><nlm:affiliation>Abteilung Kinderheilkunde, Schwerpunkt Neuropädiatrie, Georg-August-Universität Göttingen, Germany. phuppke@med.uni-goettingen.de</nlm:affiliation>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Abteilung Kinderheilkunde, Schwerpunkt Neuropädiatrie, Georg-August-Universität Göttingen</wicri:regionArea>
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<term>Child, Preschool</term>
<term>Face (abnormalities)</term>
<term>Humans</term>
<term>Infant, Newborn</term>
<term>Intellectual Disability (pathology)</term>
<term>Lymphangiectasis, Intestinal (pathology)</term>
<term>Lymphedema (pathology)</term>
<term>Magnetic Resonance Imaging</term>
<term>Male</term>
<term>Syndrome</term>
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<term>Déficience intellectuelle (anatomopathologie)</term>
<term>Encéphale (malformations)</term>
<term>Enfant d'âge préscolaire</term>
<term>Face (malformations)</term>
<term>Humains</term>
<term>Imagerie par résonance magnétique</term>
<term>Lymphangiectasie intestinale (anatomopathologie)</term>
<term>Lymphoedème (anatomopathologie)</term>
<term>Malformations multiples (anatomopathologie)</term>
<term>Mâle</term>
<term>Nouveau-né</term>
<term>Syndrome</term>
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<keywords scheme="MESH" qualifier="abnormalities" xml:lang="en"><term>Brain</term>
<term>Face</term>
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<keywords scheme="MESH" qualifier="anatomopathologie" xml:lang="fr"><term>Déficience intellectuelle</term>
<term>Lymphangiectasie intestinale</term>
<term>Lymphoedème</term>
<term>Malformations multiples</term>
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<keywords scheme="MESH" qualifier="malformations" xml:lang="fr"><term>Encéphale</term>
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<term>Enfant d'âge préscolaire</term>
<term>Humains</term>
<term>Imagerie par résonance magnétique</term>
<term>Mâle</term>
<term>Nouveau-né</term>
<term>Syndrome</term>
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<front><div type="abstract" xml:lang="en">We report two brothers with mental retardation, lymphoedema of the limbs and facial anomalies. Hennekam et al. (Am J Med Genet 34:593-600; 1989) described four patients with identical signs and intestinal lymphangiectasia. To confirm the diagnosis of Hennekam syndrome we undertook a duodenal biopsy from the older brother which revealed intestinal lymphangiectasia. So far only one patient with Hennekam syndrome and cerebral abnormalities has been described. This patient presented with pachygyria in the parietal area. Cerebral MRI in our two cases revealed small subcortical hyperintensities in both patients and a large cystic lesion in the younger patient probably representing an old media infarction.</div>
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<Abstract><AbstractText>We report two brothers with mental retardation, lymphoedema of the limbs and facial anomalies. Hennekam et al. (Am J Med Genet 34:593-600; 1989) described four patients with identical signs and intestinal lymphangiectasia. To confirm the diagnosis of Hennekam syndrome we undertook a duodenal biopsy from the older brother which revealed intestinal lymphangiectasia. So far only one patient with Hennekam syndrome and cerebral abnormalities has been described. This patient presented with pachygyria in the parietal area. Cerebral MRI in our two cases revealed small subcortical hyperintensities in both patients and a large cystic lesion in the younger patient probably representing an old media infarction.</AbstractText>
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Two brothers with Hennekam syndrome and cerebral abnormalities.

Two brothers with Hennekam syndrome and cerebral abnormalities.

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