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Case report: Rutherfurd syndrome associated with Marfan syndrome.

Identifieur interne : 002365 ( Ncbi/Curation ); précédent : 002364; suivant : 002366

Case report: Rutherfurd syndrome associated with Marfan syndrome.

Auteurs : T A Raja [Royaume-Uni] ; S. Albadri ; C. Hood

Source :

RBID : pubmed:18793596

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English descriptors

Abstract

Rutherfurd syndrome is a rare genetic disorder that is primarily characterised by the classical triad of gingival fibromatosis, delayed tooth eruption and corneal dystrophy. Associated features of the condition include abnormally shaped teeth, mental retardation and aggressive behaviour.

PubMed: 18793596

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pubmed:18793596

Le document en format XML

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<nlm:affiliation>Dept. Paediatric Dentistry, University Dental Hospital of Manchester, England. taiyub_raja@hotmail.com</nlm:affiliation>
<country>Royaume-Uni</country>
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<region type="country">Angleterre</region>
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<wicri:cityArea>Dept. Paediatric Dentistry, University Dental Hospital of Manchester</wicri:cityArea>
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<name sortKey="Albadri, S" sort="Albadri, S" uniqKey="Albadri S" first="S" last="Albadri">S. Albadri</name>
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<name sortKey="Hood, C" sort="Hood, C" uniqKey="Hood C" first="C" last="Hood">C. Hood</name>
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<name sortKey="Raja, T A" sort="Raja, T A" uniqKey="Raja T" first="T A" last="Raja">T A Raja</name>
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<nlm:affiliation>Dept. Paediatric Dentistry, University Dental Hospital of Manchester, England. taiyub_raja@hotmail.com</nlm:affiliation>
<country>Royaume-Uni</country>
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<title level="j">European archives of paediatric dentistry : official journal of the European Academy of Paediatric Dentistry</title>
<idno type="ISSN">1818-6300</idno>
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<term>Abnormalities, Multiple (diagnosis)</term>
<term>Abnormalities, Multiple (therapy)</term>
<term>Anodontia (diagnostic imaging)</term>
<term>Child, Preschool</term>
<term>Corneal Dystrophies, Hereditary (diagnosis)</term>
<term>Denture, Partial</term>
<term>Fibromatosis, Gingival (diagnosis)</term>
<term>Follow-Up Studies</term>
<term>Humans</term>
<term>Jaw, Edentulous, Partially (diagnostic imaging)</term>
<term>Jaw, Edentulous, Partially (rehabilitation)</term>
<term>Male</term>
<term>Marfan Syndrome</term>
<term>Radiography</term>
<term>Syndrome</term>
<term>Tooth Abnormalities (diagnostic imaging)</term>
<term>Tooth Abnormalities (surgery)</term>
<term>Tooth, Unerupted (diagnostic imaging)</term>
<term>Tooth, Unerupted (surgery)</term>
<term>Treatment Refusal</term>
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<term>Anodontie (imagerie diagnostique)</term>
<term>Dent incluse ()</term>
<term>Dent incluse (imagerie diagnostique)</term>
<term>Dystrophies héréditaires de la cornée (diagnostic)</term>
<term>Enfant d'âge préscolaire</term>
<term>Fibromatose gingivale (diagnostic)</term>
<term>Humains</term>
<term>Malformations dentaires ()</term>
<term>Malformations dentaires (imagerie diagnostique)</term>
<term>Malformations multiples ()</term>
<term>Malformations multiples (diagnostic)</term>
<term>Mâchoire partiellement édentée (imagerie diagnostique)</term>
<term>Mâchoire partiellement édentée (rééducation et réadaptation)</term>
<term>Mâle</term>
<term>Prothèse partielle conjointe</term>
<term>Radiographie</term>
<term>Refus de traitement</term>
<term>Syndrome</term>
<term>Syndrome de Marfan</term>
<term>Études de suivi</term>
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<term>Abnormalities, Multiple</term>
<term>Corneal Dystrophies, Hereditary</term>
<term>Fibromatosis, Gingival</term>
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<term>Dystrophies héréditaires de la cornée</term>
<term>Fibromatose gingivale</term>
<term>Malformations multiples</term>
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<term>Anodontia</term>
<term>Jaw, Edentulous, Partially</term>
<term>Tooth Abnormalities</term>
<term>Tooth, Unerupted</term>
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<term>Anodontie</term>
<term>Dent incluse</term>
<term>Malformations dentaires</term>
<term>Mâchoire partiellement édentée</term>
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<term>Jaw, Edentulous, Partially</term>
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<keywords scheme="MESH" qualifier="rééducation et réadaptation" xml:lang="fr">
<term>Mâchoire partiellement édentée</term>
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<keywords scheme="MESH" qualifier="surgery" xml:lang="en">
<term>Tooth Abnormalities</term>
<term>Tooth, Unerupted</term>
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<keywords scheme="MESH" qualifier="therapy" xml:lang="en">
<term>Abnormalities, Multiple</term>
</keywords>
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<term>Child, Preschool</term>
<term>Denture, Partial</term>
<term>Follow-Up Studies</term>
<term>Humans</term>
<term>Male</term>
<term>Marfan Syndrome</term>
<term>Radiography</term>
<term>Syndrome</term>
<term>Treatment Refusal</term>
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<keywords scheme="MESH" xml:lang="fr">
<term>Dent incluse</term>
<term>Enfant d'âge préscolaire</term>
<term>Humains</term>
<term>Malformations dentaires</term>
<term>Malformations multiples</term>
<term>Mâle</term>
<term>Prothèse partielle conjointe</term>
<term>Radiographie</term>
<term>Refus de traitement</term>
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<div type="abstract" xml:lang="en">Rutherfurd syndrome is a rare genetic disorder that is primarily characterised by the classical triad of gingival fibromatosis, delayed tooth eruption and corneal dystrophy. Associated features of the condition include abnormally shaped teeth, mental retardation and aggressive behaviour.</div>
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