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/Merge ); 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
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pubmed:2556918Le document en format XML
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<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>
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<wicri:cityArea>Department of Medical Genetics, Shodair Children's Hospital, Helena</wicri:cityArea>
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<author><name sortKey="Reynolds, J F" sort="Reynolds, J F" uniqKey="Reynolds J" first="J F" last="Reynolds">J F Reynolds</name>
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<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>
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<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>
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<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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<Title>American journal of medical genetics</Title>
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