Two brothers with Hennekam syndrome and cerebral abnormalities.
Identifieur interne : 00A175 ( Main/Exploration ); précédent : 00A174; suivant : 00A176Two brothers with Hennekam syndrome and cerebral abnormalities.
Auteurs : P. Huppke [Allemagne] ; H J Christen ; B. Sattler ; F. HanefeldSource :
- Clinical dysmorphology [ 0962-8827 ] ; 2000.
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 :
- 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
Affiliations:
Links toward previous steps (curation, corpus...)
- to stream PubMed, to step Corpus: 004B51
- to stream PubMed, to step Curation: 004B51
- to stream PubMed, to step Checkpoint: 004B51
- to stream Ncbi, to step Merge: 000242
- to stream Ncbi, to step Curation: 000242
- to stream Ncbi, to step Checkpoint: 000242
- to stream Main, to step Merge: 00A653
- to stream Main, to step Curation: 00A175
Le document en format XML
<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Two brothers with Hennekam syndrome and cerebral abnormalities.</title><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><placeName><settlement type="city">Göttingen</settlement><region type="land" nuts="1">Basse-Saxe</region></placeName><orgName type="university">Université de Göttingen</orgName></affiliation></author><author><name sortKey="Christen, H J" sort="Christen, H J" uniqKey="Christen H" first="H J" last="Christen">H J Christen</name></author><author><name sortKey="Sattler, B" sort="Sattler, B" uniqKey="Sattler B" first="B" last="Sattler">B. Sattler</name></author><author><name sortKey="Hanefeld, F" sort="Hanefeld, F" uniqKey="Hanefeld F" first="F" last="Hanefeld">F. Hanefeld</name></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2000">2000</date><idno type="RBID">pubmed:10649792</idno><idno type="pmid">10649792</idno><idno type="wicri:Area/PubMed/Corpus">004B51</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Corpus" wicri:corpus="PubMed">004B51</idno><idno type="wicri:Area/PubMed/Curation">004B51</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Curation">004B51</idno><idno type="wicri:Area/PubMed/Checkpoint">004B51</idno><idno type="wicri:explorRef" wicri:stream="Checkpoint" wicri:step="PubMed">004B51</idno><idno type="wicri:Area/Ncbi/Merge">000242</idno><idno type="wicri:Area/Ncbi/Curation">000242</idno><idno type="wicri:Area/Ncbi/Checkpoint">000242</idno><idno type="wicri:doubleKey">0962-8827:2000:Huppke P:two:brothers:with</idno><idno type="wicri:Area/Main/Merge">00A653</idno><idno type="wicri:Area/Main/Curation">00A175</idno><idno type="wicri:Area/Main/Exploration">00A175</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">Two brothers with Hennekam syndrome and cerebral abnormalities.</title><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><placeName><settlement type="city">Göttingen</settlement><region type="land" nuts="1">Basse-Saxe</region></placeName><orgName type="university">Université de Göttingen</orgName></affiliation></author><author><name sortKey="Christen, H J" sort="Christen, H J" uniqKey="Christen H" first="H J" last="Christen">H J Christen</name></author><author><name sortKey="Sattler, B" sort="Sattler, B" uniqKey="Sattler B" first="B" last="Sattler">B. Sattler</name></author><author><name sortKey="Hanefeld, F" sort="Hanefeld, F" uniqKey="Hanefeld F" first="F" last="Hanefeld">F. Hanefeld</name></author></analytic><series><title level="j">Clinical dysmorphology</title><idno type="ISSN">0962-8827</idno><imprint><date when="2000" type="published">2000</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Abnormalities, Multiple (pathology)</term><term>Biopsy</term><term>Brain (abnormalities)</term><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></keywords><keywords scheme="KwdFr" xml:lang="fr"><term>Biopsie</term><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></keywords><keywords scheme="MESH" qualifier="abnormalities" xml:lang="en"><term>Brain</term><term>Face</term></keywords><keywords scheme="MESH" qualifier="anatomopathologie" xml:lang="fr"><term>Déficience intellectuelle</term><term>Lymphangiectasie intestinale</term><term>Lymphoedème</term><term>Malformations multiples</term></keywords><keywords scheme="MESH" qualifier="malformations" xml:lang="fr"><term>Encéphale</term><term>Face</term></keywords><keywords scheme="MESH" qualifier="pathology" xml:lang="en"><term>Abnormalities, Multiple</term><term>Intellectual Disability</term><term>Lymphangiectasis, Intestinal</term><term>Lymphedema</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Biopsy</term><term>Child, Preschool</term><term>Humans</term><term>Infant, Newborn</term><term>Magnetic Resonance Imaging</term><term>Male</term><term>Syndrome</term></keywords><keywords scheme="MESH" xml:lang="fr"><term>Biopsie</term><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></keywords></textClass></profileDesc></teiHeader><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></front></TEI><affiliations><list><country><li>Allemagne</li></country><region><li>Basse-Saxe</li></region><settlement><li>Göttingen</li></settlement><orgName><li>Université de Göttingen</li></orgName></list><tree><noCountry><name sortKey="Christen, H J" sort="Christen, H J" uniqKey="Christen H" first="H J" last="Christen">H J Christen</name><name sortKey="Hanefeld, F" sort="Hanefeld, F" uniqKey="Hanefeld F" first="F" last="Hanefeld">F. Hanefeld</name><name sortKey="Sattler, B" sort="Sattler, B" uniqKey="Sattler B" first="B" last="Sattler">B. Sattler</name></noCountry><country name="Allemagne"><region name="Basse-Saxe"><name sortKey="Huppke, P" sort="Huppke, P" uniqKey="Huppke P" first="P" last="Huppke">P. Huppke</name></region></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 00A175 | SxmlIndent | more
Ou
HfdSelect -h $EXPLOR_AREA/Data/Main/Exploration/biblio.hfd -nk 00A175 | 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= pubmed:10649792
|texte= Two brothers with Hennekam syndrome and cerebral abnormalities.
}}
Pour générer des pages wiki
HfdIndexSelect -h $EXPLOR_AREA/Data/Main/Exploration/RBID.i -Sk "pubmed:10649792" \
| HfdSelect -Kh $EXPLOR_AREA/Data/Main/Exploration/biblio.hfd \
| NlmPubMed2Wicri -a LymphedemaV1
| This area was generated with Dilib version V0.6.31. |  |