Case report: Rutherfurd syndrome associated with Marfan syndrome.
Identifieur interne : 002365 ( Ncbi/Curation ); précédent : 002364; suivant : 002366Case report: Rutherfurd syndrome associated with Marfan syndrome.
Auteurs : T A Raja [Royaume-Uni] ; S. Albadri ; C. HoodSource :
- European archives of paediatric dentistry : official journal of the European Academy of Paediatric Dentistry [ 1818-6300 ] ; 2008.
Descripteurs français
- KwdFr :
- Anodontie (imagerie diagnostique), Dent incluse (), Dent incluse (imagerie diagnostique), Dystrophies héréditaires de la cornée (diagnostic), Enfant d'âge préscolaire, Fibromatose gingivale (diagnostic), Humains, Malformations dentaires (), Malformations dentaires (imagerie diagnostique), Malformations multiples (), Malformations multiples (diagnostic), Mâchoire partiellement édentée (imagerie diagnostique), Mâchoire partiellement édentée (rééducation et réadaptation), Mâle, Prothèse partielle conjointe, Radiographie, Refus de traitement, Syndrome, Syndrome de Marfan, Études de suivi.
- MESH :
- diagnostic : Dystrophies héréditaires de la cornée, Fibromatose gingivale, Malformations multiples.
- imagerie diagnostique : Anodontie, Dent incluse, Malformations dentaires, Mâchoire partiellement édentée.
- rééducation et réadaptation : Mâchoire partiellement édentée.
- Dent incluse, Enfant d'âge préscolaire, Humains, Malformations dentaires, Malformations multiples, Mâle, Prothèse partielle conjointe, Radiographie, Refus de traitement, Syndrome, Syndrome de Marfan, Études de suivi.
English descriptors
- KwdEn :
- Abnormalities, Multiple (diagnosis), Abnormalities, Multiple (therapy), Anodontia (diagnostic imaging), Child, Preschool, Corneal Dystrophies, Hereditary (diagnosis), Denture, Partial, Fibromatosis, Gingival (diagnosis), Follow-Up Studies, Humans, Jaw, Edentulous, Partially (diagnostic imaging), Jaw, Edentulous, Partially (rehabilitation), Male, Marfan Syndrome, Radiography, Syndrome, Tooth Abnormalities (diagnostic imaging), Tooth Abnormalities (surgery), Tooth, Unerupted (diagnostic imaging), Tooth, Unerupted (surgery), Treatment Refusal.
- MESH :
- diagnosis : Abnormalities, Multiple, Corneal Dystrophies, Hereditary, Fibromatosis, Gingival.
- diagnostic imaging : Anodontia, Jaw, Edentulous, Partially, Tooth Abnormalities, Tooth, Unerupted.
- rehabilitation : Jaw, Edentulous, Partially.
- surgery : Tooth Abnormalities, Tooth, Unerupted.
- therapy : Abnormalities, Multiple.
- Child, Preschool, Denture, Partial, Follow-Up Studies, Humans, Male, Marfan Syndrome, Radiography, Syndrome, Treatment Refusal.
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:18793596Le document en format XML
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<term>Child, Preschool</term>
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<term>Syndrome</term>
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<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>
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<term>Malformations dentaires (imagerie diagnostique)</term>
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<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>Corneal Dystrophies, Hereditary</term>
<term>Fibromatosis, Gingival</term>
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<term>Fibromatose gingivale</term>
<term>Malformations multiples</term>
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<keywords scheme="MESH" qualifier="diagnostic imaging" xml:lang="en"><term>Anodontia</term>
<term>Jaw, Edentulous, Partially</term>
<term>Tooth Abnormalities</term>
<term>Tooth, Unerupted</term>
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<term>Dent incluse</term>
<term>Malformations dentaires</term>
<term>Mâchoire partiellement édentée</term>
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<term>Tooth, Unerupted</term>
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<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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<term>Enfant d'âge préscolaire</term>
<term>Humains</term>
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<term>Malformations multiples</term>
<term>Mâle</term>
<term>Prothèse partielle conjointe</term>
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<term>Refus de traitement</term>
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<front><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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