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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 : 006F10

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?

Auteurs : J M Opitz [États-Unis] ; J F Reynolds ; J M Fitzgerald

Source :

American journal of medical genetics [ 0148-7299 ] ; 1989.

RBID : pubmed:2556918

Descripteurs français

English descriptors

KwdEn :
- Abnormalities, Multiple (diagnosis), Child, Preschool, Eye Abnormalities (diagnosis), Female, Hearing Loss (diagnosis), Humans, Joint Instability (diagnosis), Lymphedema (diagnosis), Mandibulofacial Dysostosis (diagnosis), Pigmentation Disorders (diagnosis), Syndactyly (diagnosis), Syndrome.
MESH :
- diagnosis : Abnormalities, Multiple, Eye Abnormalities, Hearing Loss, Joint Instability, Lymphedema, Mandibulofacial Dysostosis, Pigmentation Disorders, Syndactyly.
- Child, Preschool, Female, Humans, Syndrome.

DOI: 10.1002/ajmg.1320330402
PubMed: 2556918

Affiliations:

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pubmed:2556918

Le document en format XML

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<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>
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<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>
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</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>
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<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>
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<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>

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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?

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?

Source :

Descripteurs français

English descriptors

Links toward previous steps (curation, corpus...)

Links to Exploration step

Le document en format XML

Pour manipuler ce document sous Unix (Dilib)

Pour mettre un lien sur cette page dans le réseau Wicri

Pour générer des pages wiki