Mandibulofacial dysostosis or bilateral hemifacial microsomia with hearing loss, telecanthus, tetramelic postaxial hexadactyly, congenital hypotonia and lymphedema with joint hypermobility, and pigmentary dysplasia: a new syndrome?
Identifieur interne : 006F09 ( Ncbi/Checkpoint ); précédent : 006F08; suivant : 006F10Mandibulofacial dysostosis or bilateral hemifacial microsomia with hearing loss, telecanthus, tetramelic postaxial hexadactyly, congenital hypotonia and lymphedema with joint hypermobility, and pigmentary dysplasia: a new syndrome?
Auteurs : J M Opitz [États-Unis] ; J F Reynolds ; J M FitzgeraldSource :
- American journal of medical genetics [ 0148-7299 ] ; 1989.
Descripteurs français
- KwdFr :
- Dysostose mandibulofaciale (diagnostic), Enfant d'âge préscolaire, Femelle, Humains, Instabilité articulaire (diagnostic), Lymphoedème (diagnostic), Malformations multiples (diagnostic), Malformations oculaires (diagnostic), Perte d'audition (diagnostic), Syndactylie (diagnostic), Syndrome, Troubles de la pigmentation (diagnostic).
- MESH :
English descriptors
- KwdEn :
- MESH :
DOI: 10.1002/ajmg.1320330402
PubMed: 2556918
Affiliations:
Links toward previous steps (curation, corpus...)
- to stream PubMed, to step Corpus: 005F56
- to stream PubMed, to step Curation: 005F56
- to stream PubMed, to step Checkpoint: 005F56
- to stream Ncbi, to step Merge: 006F09
- to stream Ncbi, to step Curation: 006F09
Links to Exploration step
pubmed:2556918Le document en format XML
<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Mandibulofacial dysostosis or bilateral hemifacial microsomia with hearing loss, telecanthus, tetramelic postaxial hexadactyly, congenital hypotonia and lymphedema with joint hypermobility, and pigmentary dysplasia: a new syndrome?</title>
<author><name sortKey="Opitz, J M" sort="Opitz, J M" uniqKey="Opitz J" first="J M" last="Opitz">J M Opitz</name>
<affiliation wicri:level="2"><nlm:affiliation>Department of Medical Genetics, Shodair Children's Hospital, Helena, MT 59604.</nlm:affiliation>
<country xml:lang="fr">États-Unis</country>
<placeName><region type="state">Montana</region>
</placeName>
<wicri:cityArea>Department of Medical Genetics, Shodair Children's Hospital, Helena</wicri:cityArea>
</affiliation>
</author>
<author><name sortKey="Reynolds, J F" sort="Reynolds, J F" uniqKey="Reynolds J" first="J F" last="Reynolds">J F Reynolds</name>
</author>
<author><name sortKey="Fitzgerald, J M" sort="Fitzgerald, J M" uniqKey="Fitzgerald J" first="J M" last="Fitzgerald">J M Fitzgerald</name>
</author>
</titleStmt>
<publicationStmt><idno type="wicri:source">PubMed</idno>
<date when="1989">1989</date>
<idno type="RBID">pubmed:2556918</idno>
<idno type="pmid">2556918</idno>
<idno type="doi">10.1002/ajmg.1320330402</idno>
<idno type="wicri:Area/PubMed/Corpus">005F56</idno>
<idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Corpus" wicri:corpus="PubMed">005F56</idno>
<idno type="wicri:Area/PubMed/Curation">005F56</idno>
<idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Curation">005F56</idno>
<idno type="wicri:Area/PubMed/Checkpoint">005F56</idno>
<idno type="wicri:explorRef" wicri:stream="Checkpoint" wicri:step="PubMed">005F56</idno>
<idno type="wicri:Area/Ncbi/Merge">006F09</idno>
<idno type="wicri:Area/Ncbi/Curation">006F09</idno>
<idno type="wicri:Area/Ncbi/Checkpoint">006F09</idno>
</publicationStmt>
<sourceDesc><biblStruct><analytic><title xml:lang="en">Mandibulofacial dysostosis or bilateral hemifacial microsomia with hearing loss, telecanthus, tetramelic postaxial hexadactyly, congenital hypotonia and lymphedema with joint hypermobility, and pigmentary dysplasia: a new syndrome?</title>
<author><name sortKey="Opitz, J M" sort="Opitz, J M" uniqKey="Opitz J" first="J M" last="Opitz">J M Opitz</name>
<affiliation wicri:level="2"><nlm:affiliation>Department of Medical Genetics, Shodair Children's Hospital, Helena, MT 59604.</nlm:affiliation>
<country xml:lang="fr">États-Unis</country>
<placeName><region type="state">Montana</region>
</placeName>
<wicri:cityArea>Department of Medical Genetics, Shodair Children's Hospital, Helena</wicri:cityArea>
</affiliation>
</author>
<author><name sortKey="Reynolds, J F" sort="Reynolds, J F" uniqKey="Reynolds J" first="J F" last="Reynolds">J F Reynolds</name>
</author>
<author><name sortKey="Fitzgerald, J M" sort="Fitzgerald, J M" uniqKey="Fitzgerald J" first="J M" last="Fitzgerald">J M Fitzgerald</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 (diagnosis)</term>
<term>Child, Preschool</term>
<term>Eye Abnormalities (diagnosis)</term>
<term>Female</term>
<term>Hearing Loss (diagnosis)</term>
<term>Humans</term>
<term>Joint Instability (diagnosis)</term>
<term>Lymphedema (diagnosis)</term>
<term>Mandibulofacial Dysostosis (diagnosis)</term>
<term>Pigmentation Disorders (diagnosis)</term>
<term>Syndactyly (diagnosis)</term>
<term>Syndrome</term>
</keywords>
<keywords scheme="KwdFr" xml:lang="fr"><term>Dysostose mandibulofaciale (diagnostic)</term>
<term>Enfant d'âge préscolaire</term>
<term>Femelle</term>
<term>Humains</term>
<term>Instabilité articulaire (diagnostic)</term>
<term>Lymphoedème (diagnostic)</term>
<term>Malformations multiples (diagnostic)</term>
<term>Malformations oculaires (diagnostic)</term>
<term>Perte d'audition (diagnostic)</term>
<term>Syndactylie (diagnostic)</term>
<term>Syndrome</term>
<term>Troubles de la pigmentation (diagnostic)</term>
</keywords>
<keywords scheme="MESH" qualifier="diagnosis" xml:lang="en"><term>Abnormalities, Multiple</term>
<term>Eye Abnormalities</term>
<term>Hearing Loss</term>
<term>Joint Instability</term>
<term>Lymphedema</term>
<term>Mandibulofacial Dysostosis</term>
<term>Pigmentation Disorders</term>
<term>Syndactyly</term>
</keywords>
<keywords scheme="MESH" qualifier="diagnostic" xml:lang="fr"><term>Dysostose mandibulofaciale</term>
<term>Instabilité articulaire</term>
<term>Lymphoedème</term>
<term>Malformations multiples</term>
<term>Malformations oculaires</term>
<term>Perte d'audition</term>
<term>Syndactylie</term>
<term>Troubles de la pigmentation</term>
</keywords>
<keywords scheme="MESH" xml:lang="en"><term>Child, Preschool</term>
<term>Female</term>
<term>Humans</term>
<term>Syndrome</term>
</keywords>
<keywords scheme="MESH" xml:lang="fr"><term>Enfant d'âge préscolaire</term>
<term>Femelle</term>
<term>Humains</term>
<term>Syndrome</term>
</keywords>
</textClass>
</profileDesc>
</teiHeader>
</TEI>
<affiliations><list><country><li>États-Unis</li>
</country>
<region><li>Montana</li>
</region>
</list>
<tree><noCountry><name sortKey="Fitzgerald, J M" sort="Fitzgerald, J M" uniqKey="Fitzgerald J" first="J M" last="Fitzgerald">J M Fitzgerald</name>
<name sortKey="Reynolds, J F" sort="Reynolds, J F" uniqKey="Reynolds J" first="J F" last="Reynolds">J F Reynolds</name>
</noCountry>
<country name="États-Unis"><region name="Montana"><name sortKey="Opitz, J M" sort="Opitz, J M" uniqKey="Opitz J" first="J M" last="Opitz">J M Opitz</name>
</region>
</country>
</tree>
</affiliations>
</record>
Pour manipuler ce document sous Unix (Dilib)
EXPLOR_STEP=$WICRI_ROOT/Wicri/Sante/explor/LymphedemaV1/Data/Ncbi/Checkpoint
HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 006F09 | SxmlIndent | more
Ou
HfdSelect -h $EXPLOR_AREA/Data/Ncbi/Checkpoint/biblio.hfd -nk 006F09 | SxmlIndent | more
Pour mettre un lien sur cette page dans le réseau Wicri
{{Explor lien |wiki= Wicri/Sante |area= LymphedemaV1 |flux= Ncbi |étape= Checkpoint |type= RBID |clé= pubmed:2556918 |texte= Mandibulofacial dysostosis or bilateral hemifacial microsomia with hearing loss, telecanthus, tetramelic postaxial hexadactyly, congenital hypotonia and lymphedema with joint hypermobility, and pigmentary dysplasia: a new syndrome? }}
Pour générer des pages wiki
HfdIndexSelect -h $EXPLOR_AREA/Data/Ncbi/Checkpoint/RBID.i -Sk "pubmed:2556918" \ | HfdSelect -Kh $EXPLOR_AREA/Data/Ncbi/Checkpoint/biblio.hfd \ | NlmPubMed2Wicri -a LymphedemaV1
![]() | This area was generated with Dilib version V0.6.31. | ![]() |