Autosomal recessive intestinal lymphangiectasia and lymphedema, with facial anomalies and mental retardation.
Identifieur interne : 007712 ( Ncbi/Curation ); précédent : 007711; suivant : 007713Autosomal recessive intestinal lymphangiectasia and lymphedema, with facial anomalies and mental retardation.
Auteurs : R C Hennekam [Pays-Bas] ; R A Geerdink ; B C Hamel ; F A Hennekam ; P. Kraus ; J A Rammeloo ; A A TillemansSource :
- American journal of medical genetics [ 0148-7299 ] ; 1989.
Descripteurs français
- KwdFr :
- Adulte, Consanguinité, Déficience intellectuelle (), Déficience intellectuelle (génétique), Enfant, Enfant d'âge préscolaire, Entéropathie exsudative (génétique), Face (malformations), Femelle, Gènes récessifs, Humains, Lymphangiectasie intestinale (), Lymphangiectasie intestinale (anatomopathologie), Lymphangiectasie intestinale (génétique), Lymphoedème (), Lymphoedème (génétique), Malformations multiples (génétique), Mâle, Pedigree.
- MESH :
- anatomopathologie : Lymphangiectasie intestinale.
- génétique : Déficience intellectuelle, Entéropathie exsudative, Lymphangiectasie intestinale, Lymphoedème, Malformations multiples.
- malformations : Face.
- Adulte, Consanguinité, Déficience intellectuelle, Enfant, Enfant d'âge préscolaire, Femelle, Gènes récessifs, Humains, Lymphangiectasie intestinale, Lymphoedème, Mâle, Pedigree.
English descriptors
- KwdEn :
- Abnormalities, Multiple (genetics), Adult, Child, Child, Preschool, Consanguinity, Face (abnormalities), Female, Genes, Recessive, Humans, Intellectual Disability (complications), Intellectual Disability (genetics), Lymphangiectasis, Intestinal (complications), Lymphangiectasis, Intestinal (genetics), Lymphangiectasis, Intestinal (pathology), Lymphedema (complications), Lymphedema (genetics), Male, Pedigree, Protein-Losing Enteropathies (genetics).
- MESH :
- abnormalities : Face.
- complications : Intellectual Disability, Lymphangiectasis, Intestinal, Lymphedema.
- genetics : Abnormalities, Multiple, Intellectual Disability, Lymphangiectasis, Intestinal, Lymphedema, Protein-Losing Enteropathies.
- pathology : Lymphangiectasis, Intestinal.
- Adult, Child, Child, Preschool, Consanguinity, Female, Genes, Recessive, Humans, Male, Pedigree.
Abstract
We report on two male and two female relatives with intestinal lymphangiectasia; severe lymphedema of limbs, genitalia, and face; facial anomalies; seizures; mild growth retardation; and moderate mental retardation. Main facial anomalies are a flat face, flat nasal bridge, hypertelorism, small mouth, tooth anomalies, and ear defects. Their parents are consanguineous. This disorder probably is an hitherto undescribed autosomal recessive syndrome.
DOI: 10.1002/ajmg.1320340429
PubMed: 2624276
Links toward previous steps (curation, corpus...)
- to stream PubMed, to step Corpus: Pour aller vers cette notice dans l'étape Curation :005F08
- to stream PubMed, to step Curation: Pour aller vers cette notice dans l'étape Curation :005F08
- to stream PubMed, to step Checkpoint: Pour aller vers cette notice dans l'étape Curation :005F08
- to stream Ncbi, to step Merge: Pour aller vers cette notice dans l'étape Curation :007712
Links to Exploration step
pubmed:2624276Le document en format XML
<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Autosomal recessive intestinal lymphangiectasia and lymphedema, with facial anomalies and mental retardation.</title><author><name sortKey="Hennekam, R C" sort="Hennekam, R C" uniqKey="Hennekam R" first="R C" last="Hennekam">R C Hennekam</name><affiliation wicri:level="1"><nlm:affiliation>Clinical Genetics Center Utrecht, The Netherlands.</nlm:affiliation><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>Clinical Genetics Center Utrecht</wicri:regionArea></affiliation></author><author><name sortKey="Geerdink, R A" sort="Geerdink, R A" uniqKey="Geerdink R" first="R A" last="Geerdink">R A Geerdink</name></author><author><name sortKey="Hamel, B C" sort="Hamel, B C" uniqKey="Hamel B" first="B C" last="Hamel">B C Hamel</name></author><author><name sortKey="Hennekam, F A" sort="Hennekam, F A" uniqKey="Hennekam F" first="F A" last="Hennekam">F A Hennekam</name></author><author><name sortKey="Kraus, P" sort="Kraus, P" uniqKey="Kraus P" first="P" last="Kraus">P. Kraus</name></author><author><name sortKey="Rammeloo, J A" sort="Rammeloo, J A" uniqKey="Rammeloo J" first="J A" last="Rammeloo">J A Rammeloo</name></author><author><name sortKey="Tillemans, A A" sort="Tillemans, A A" uniqKey="Tillemans A" first="A A" last="Tillemans">A A Tillemans</name></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="1989">1989</date><idno type="RBID">pubmed:2624276</idno><idno type="pmid">2624276</idno><idno type="doi">10.1002/ajmg.1320340429</idno><idno type="wicri:Area/PubMed/Corpus">005F08</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Corpus" wicri:corpus="PubMed">005F08</idno><idno type="wicri:Area/PubMed/Curation">005F08</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Curation">005F08</idno><idno type="wicri:Area/PubMed/Checkpoint">005F08</idno><idno type="wicri:explorRef" wicri:stream="Checkpoint" wicri:step="PubMed">005F08</idno><idno type="wicri:Area/Ncbi/Merge">007712</idno><idno type="wicri:Area/Ncbi/Curation">007712</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">Autosomal recessive intestinal lymphangiectasia and lymphedema, with facial anomalies and mental retardation.</title><author><name sortKey="Hennekam, R C" sort="Hennekam, R C" uniqKey="Hennekam R" first="R C" last="Hennekam">R C Hennekam</name><affiliation wicri:level="1"><nlm:affiliation>Clinical Genetics Center Utrecht, The Netherlands.</nlm:affiliation><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>Clinical Genetics Center Utrecht</wicri:regionArea></affiliation></author><author><name sortKey="Geerdink, R A" sort="Geerdink, R A" uniqKey="Geerdink R" first="R A" last="Geerdink">R A Geerdink</name></author><author><name sortKey="Hamel, B C" sort="Hamel, B C" uniqKey="Hamel B" first="B C" last="Hamel">B C Hamel</name></author><author><name sortKey="Hennekam, F A" sort="Hennekam, F A" uniqKey="Hennekam F" first="F A" last="Hennekam">F A Hennekam</name></author><author><name sortKey="Kraus, P" sort="Kraus, P" uniqKey="Kraus P" first="P" last="Kraus">P. Kraus</name></author><author><name sortKey="Rammeloo, J A" sort="Rammeloo, J A" uniqKey="Rammeloo J" first="J A" last="Rammeloo">J A Rammeloo</name></author><author><name sortKey="Tillemans, A A" sort="Tillemans, A A" uniqKey="Tillemans A" first="A A" last="Tillemans">A A Tillemans</name></author></analytic><series><title level="j">American journal of medical genetics</title><idno type="ISSN">0148-7299</idno><imprint><date when="1989" type="published">1989</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Abnormalities, Multiple (genetics)</term><term>Adult</term><term>Child</term><term>Child, Preschool</term><term>Consanguinity</term><term>Face (abnormalities)</term><term>Female</term><term>Genes, Recessive</term><term>Humans</term><term>Intellectual Disability (complications)</term><term>Intellectual Disability (genetics)</term><term>Lymphangiectasis, Intestinal (complications)</term><term>Lymphangiectasis, Intestinal (genetics)</term><term>Lymphangiectasis, Intestinal (pathology)</term><term>Lymphedema (complications)</term><term>Lymphedema (genetics)</term><term>Male</term><term>Pedigree</term><term>Protein-Losing Enteropathies (genetics)</term></keywords><keywords scheme="KwdFr" xml:lang="fr"><term>Adulte</term><term>Consanguinité</term><term>Déficience intellectuelle ()</term><term>Déficience intellectuelle (génétique)</term><term>Enfant</term><term>Enfant d'âge préscolaire</term><term>Entéropathie exsudative (génétique)</term><term>Face (malformations)</term><term>Femelle</term><term>Gènes récessifs</term><term>Humains</term><term>Lymphangiectasie intestinale ()</term><term>Lymphangiectasie intestinale (anatomopathologie)</term><term>Lymphangiectasie intestinale (génétique)</term><term>Lymphoedème ()</term><term>Lymphoedème (génétique)</term><term>Malformations multiples (génétique)</term><term>Mâle</term><term>Pedigree</term></keywords><keywords scheme="MESH" qualifier="abnormalities" xml:lang="en"><term>Face</term></keywords><keywords scheme="MESH" qualifier="anatomopathologie" xml:lang="fr"><term>Lymphangiectasie intestinale</term></keywords><keywords scheme="MESH" qualifier="complications" xml:lang="en"><term>Intellectual Disability</term><term>Lymphangiectasis, Intestinal</term><term>Lymphedema</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Abnormalities, Multiple</term><term>Intellectual Disability</term><term>Lymphangiectasis, Intestinal</term><term>Lymphedema</term><term>Protein-Losing Enteropathies</term></keywords><keywords scheme="MESH" qualifier="génétique" xml:lang="fr"><term>Déficience intellectuelle</term><term>Entéropathie exsudative</term><term>Lymphangiectasie intestinale</term><term>Lymphoedème</term><term>Malformations multiples</term></keywords><keywords scheme="MESH" qualifier="malformations" xml:lang="fr"><term>Face</term></keywords><keywords scheme="MESH" qualifier="pathology" xml:lang="en"><term>Lymphangiectasis, Intestinal</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adult</term><term>Child</term><term>Child, Preschool</term><term>Consanguinity</term><term>Female</term><term>Genes, Recessive</term><term>Humans</term><term>Male</term><term>Pedigree</term></keywords><keywords scheme="MESH" xml:lang="fr"><term>Adulte</term><term>Consanguinité</term><term>Déficience intellectuelle</term><term>Enfant</term><term>Enfant d'âge préscolaire</term><term>Femelle</term><term>Gènes récessifs</term><term>Humains</term><term>Lymphangiectasie intestinale</term><term>Lymphoedème</term><term>Mâle</term><term>Pedigree</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">We report on two male and two female relatives with intestinal lymphangiectasia; severe lymphedema of limbs, genitalia, and face; facial anomalies; seizures; mild growth retardation; and moderate mental retardation. Main facial anomalies are a flat face, flat nasal bridge, hypertelorism, small mouth, tooth anomalies, and ear defects. Their parents are consanguineous. This disorder probably is an hitherto undescribed autosomal recessive syndrome.</div></front></TEI></record>Pour manipuler ce document sous Unix (Dilib)
EXPLOR_STEP=$WICRI_ROOT/Wicri/Sante/explor/LymphedemaV1/Data/Ncbi/Curation
HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 007712 | SxmlIndent | more
Ou
HfdSelect -h $EXPLOR_AREA/Data/Ncbi/Curation/biblio.hfd -nk 007712 | SxmlIndent | more
Pour mettre un lien sur cette page dans le réseau Wicri
{{Explor lien
|wiki= Wicri/Sante
|area= LymphedemaV1
|flux= Ncbi
|étape= Curation
|type= RBID
|clé= pubmed:2624276
|texte= Autosomal recessive intestinal lymphangiectasia and lymphedema, with facial anomalies and mental retardation.
}}
Pour générer des pages wiki
HfdIndexSelect -h $EXPLOR_AREA/Data/Ncbi/Curation/RBID.i -Sk "pubmed:2624276" \
| HfdSelect -Kh $EXPLOR_AREA/Data/Ncbi/Curation/biblio.hfd \
| NlmPubMed2Wicri -a LymphedemaV1
| This area was generated with Dilib version V0.6.31. |  |