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...)
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Le document en format XML
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<wicri:cityArea>Department of Medical Genetics, Shodair Children's Hospital, Helena</wicri:cityArea>
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<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>
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