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 : 00E030 ( Main/Exploration ); précédent : 00E029; suivant : 00E031Mandibulofacial 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 : John M. Opitz [États-Unis] ; James F. Reynolds [États-Unis] ; Joan M. Fitzgerald [États-Unis]Source :
- American Journal of Medical Genetics [ 0148-7299 ] ; 1989-08.
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 :
- Pascal (Inist)
- Dysostose mandibulofaciale, Enfant, Etude familiale, Hypotonie musculaire, Lymphoedème, Main, Malformation, Membre inférieur, Membre supérieur, Peau pathologie, Pied, Stomatologie, Surdité, Syndactylie, Syndrome complexe, Système nerveux pathologie, Système ostéoarticulaire pathologie, Trouble pigmentation, Trouble tonus.
- Wicri :
- topic : Enfant.
English descriptors
- KwdEn :
- Abnormalities, Multiple (diagnosis), Child, Child, Preschool, Complex syndrome, Diseases of the osteoarticular system, Eye Abnormalities (diagnosis), Family study, Female, Foot, Hand, Hearing Loss (diagnosis), Hearing loss, Humans, Joint Instability (diagnosis), Lower limb, Lymphedema, Lymphedema (diagnosis), Malformation, Mandibulofacial Dysostosis (diagnosis), Mandibulofacial dysostosis, Muscle tonus alteration, Muscular hypotonia, Nervous system diseases, Pigmentation Disorders (diagnosis), Pigmentation disorder, Skin disease, Stomatology, Syndactyly, Syndactyly (diagnosis), Syndrome, Upper limb.
- MESH :
Url:
DOI: 10.1002/ajmg.1320330402
Affiliations:
Links toward previous steps (curation, corpus...)
- to stream Istex, to step Corpus: 006392
- to stream Istex, to step Curation: 006392
- to stream Istex, to step Checkpoint: 005790
- 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
- to stream Ncbi, to step Checkpoint: 006F09
- to stream Main, to step Merge: 00EC80
- to stream PascalFrancis, to step Corpus: 000F09
- to stream PascalFrancis, to step Curation: 000B99
- to stream PascalFrancis, to step Checkpoint: 000F04
- to stream Main, to step Merge: 00ED90
- to stream Main, to step Curation: 00E030
Le document en format XML
<record><TEI wicri:istexFullTextTei="biblStruct"><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, John M" sort="Opitz, John M" uniqKey="Opitz J" first="John M." last="Opitz">John M. Opitz</name></author><author><name sortKey="Reynolds, James F" sort="Reynolds, James F" uniqKey="Reynolds J" first="James F." last="Reynolds">James F. Reynolds</name></author><author><name sortKey="Fitzgerald, Joan M" sort="Fitzgerald, Joan M" uniqKey="Fitzgerald J" first="Joan M." last="Fitzgerald">Joan M. Fitzgerald</name></author></titleStmt><publicationStmt><idno type="wicri:source">ISTEX</idno><idno type="RBID">ISTEX:D539D560875071C363D7E6C11E3CCF598FE13878</idno><date when="1989" year="1989">1989</date><idno type="doi">10.1002/ajmg.1320330402</idno><idno type="url">https://api.istex.fr/document/D539D560875071C363D7E6C11E3CCF598FE13878/fulltext/pdf</idno><idno type="wicri:Area/Istex/Corpus">006392</idno><idno type="wicri:explorRef" wicri:stream="Istex" wicri:step="Corpus" wicri:corpus="ISTEX">006392</idno><idno type="wicri:Area/Istex/Curation">006392</idno><idno type="wicri:Area/Istex/Checkpoint">005790</idno><idno type="wicri:explorRef" wicri:stream="Istex" wicri:step="Checkpoint">005790</idno><idno type="wicri:doubleKey">0148-7299:1989:Opitz J:mandibulofacial:dysostosis:or</idno><idno type="wicri:source">PubMed</idno><idno type="RBID">pubmed:2556918</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><idno type="wicri:doubleKey">0148-7299:1989:Opitz J:mandibulofacial:dysostosis:or</idno><idno type="wicri:Area/Main/Merge">00EC80</idno><idno type="wicri:source">INIST</idno><idno type="RBID">Pascal:90-0080160</idno><idno type="wicri:Area/PascalFrancis/Corpus">000F09</idno><idno type="wicri:Area/PascalFrancis/Curation">000B99</idno><idno type="wicri:Area/PascalFrancis/Checkpoint">000F04</idno><idno type="wicri:explorRef" wicri:stream="PascalFrancis" wicri:step="Checkpoint">000F04</idno><idno type="wicri:doubleKey">0148-7299:1989:Opitz J:mandibulofacial:dysostosis:or</idno><idno type="wicri:Area/Main/Merge">00ED90</idno><idno type="wicri:Area/Main/Curation">00E030</idno><idno type="wicri:Area/Main/Exploration">00E030</idno></publicationStmt><sourceDesc><biblStruct><analytic><title level="a" type="main" 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, John M" sort="Opitz, John M" uniqKey="Opitz J" first="John M." last="Opitz">John M. Opitz</name><affiliation wicri:level="2"><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><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><placeName><region type="state">Montana</region></placeName><wicri:cityArea>Montana State University, Bozeman</wicri:cityArea></affiliation><affiliation></affiliation><affiliation></affiliation><affiliation></affiliation></author><author><name sortKey="Reynolds, James F" sort="Reynolds, James F" uniqKey="Reynolds J" first="James F." last="Reynolds">James F. Reynolds</name><affiliation wicri:level="2"><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><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><placeName><region type="state">Montana</region></placeName><wicri:cityArea>Montana State University, Bozeman</wicri:cityArea></affiliation><affiliation></affiliation></author><author><name sortKey="Fitzgerald, Joan M" sort="Fitzgerald, Joan M" uniqKey="Fitzgerald J" first="Joan M." last="Fitzgerald">Joan M. Fitzgerald</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><placeName><region type="state">Montana</region></placeName><wicri:cityArea>Montana State University, Bozeman</wicri:cityArea></affiliation></author></analytic><monogr></monogr><series><title level="j" type="main">American Journal of Medical Genetics</title><title level="j" type="alt">AMERICAN JOURNAL OF MEDICAL GENETICS</title><idno type="ISSN">0148-7299</idno><idno type="eISSN">1096-8628</idno><imprint><biblScope unit="vol">33</biblScope><biblScope unit="issue">4</biblScope><biblScope unit="page" from="433">433</biblScope><biblScope unit="page" to="435">435</biblScope><biblScope unit="page-count">3</biblScope><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>New York</pubPlace><date type="published" when="1989-08">1989-08</date></imprint><idno type="ISSN">0148-7299</idno></series></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0148-7299</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Abnormalities, Multiple (diagnosis)</term><term>Child</term><term>Child, Preschool</term><term>Complex syndrome</term><term>Diseases of the osteoarticular system</term><term>Eye Abnormalities (diagnosis)</term><term>Family study</term><term>Female</term><term>Foot</term><term>Hand</term><term>Hearing Loss (diagnosis)</term><term>Hearing loss</term><term>Humans</term><term>Joint Instability (diagnosis)</term><term>Lower limb</term><term>Lymphedema</term><term>Lymphedema (diagnosis)</term><term>Malformation</term><term>Mandibulofacial Dysostosis (diagnosis)</term><term>Mandibulofacial dysostosis</term><term>Muscle tonus alteration</term><term>Muscular hypotonia</term><term>Nervous system diseases</term><term>Pigmentation Disorders (diagnosis)</term><term>Pigmentation disorder</term><term>Skin disease</term><term>Stomatology</term><term>Syndactyly</term><term>Syndactyly (diagnosis)</term><term>Syndrome</term><term>Upper limb</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><keywords scheme="Pascal" xml:lang="fr"><term>Dysostose mandibulofaciale</term><term>Enfant</term><term>Etude familiale</term><term>Hypotonie musculaire</term><term>Lymphoedème</term><term>Main</term><term>Malformation</term><term>Membre inférieur</term><term>Membre supérieur</term><term>Peau pathologie</term><term>Pied</term><term>Stomatologie</term><term>Surdité</term><term>Syndactylie</term><term>Syndrome complexe</term><term>Système nerveux pathologie</term><term>Système ostéoarticulaire pathologie</term><term>Trouble pigmentation</term><term>Trouble tonus</term></keywords><keywords scheme="Wicri" type="topic" xml:lang="fr"><term>Enfant</term></keywords></textClass></profileDesc></teiHeader></TEI><affiliations><list><country><li>États-Unis</li></country><region><li>Montana</li></region></list><tree><country name="États-Unis"><region name="Montana"><name sortKey="Opitz, John M" sort="Opitz, John M" uniqKey="Opitz J" first="John M." last="Opitz">John M. Opitz</name></region><name sortKey="Fitzgerald, Joan M" sort="Fitzgerald, Joan M" uniqKey="Fitzgerald J" first="Joan M." last="Fitzgerald">Joan M. Fitzgerald</name><name sortKey="Opitz, John M" sort="Opitz, John M" uniqKey="Opitz J" first="John M." last="Opitz">John M. Opitz</name><name sortKey="Reynolds, James F" sort="Reynolds, James F" uniqKey="Reynolds J" first="James F." last="Reynolds">James F. Reynolds</name><name sortKey="Reynolds, James F" sort="Reynolds, James F" uniqKey="Reynolds J" first="James F." last="Reynolds">James F. Reynolds</name></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 00E030 | SxmlIndent | more
Ou
HfdSelect -h $EXPLOR_AREA/Data/Main/Exploration/biblio.hfd -nk 00E030 | 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= ISTEX:D539D560875071C363D7E6C11E3CCF598FE13878
|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?
}}
| This area was generated with Dilib version V0.6.31. |  |