Case report: Rutherfurd syndrome associated with Marfan syndrome.
Identifieur interne : 002365 ( Ncbi/Merge ); 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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Paediatric Dentistry, University Dental Hospital of Manchester, England. taiyub_raja@hotmail.com</nlm:affiliation><country>Royaume-Uni</country><placeName><region type="country">Angleterre</region></placeName><wicri:cityArea>Dept. Paediatric Dentistry, University Dental Hospital of Manchester</wicri:cityArea></affiliation></author><author><name sortKey="Albadri, S" sort="Albadri, S" uniqKey="Albadri S" first="S" last="Albadri">S. Albadri</name></author><author><name sortKey="Hood, C" sort="Hood, C" uniqKey="Hood C" first="C" last="Hood">C. Hood</name></author></analytic><series><title level="j">European archives of paediatric dentistry : official journal of the European Academy of Paediatric Dentistry</title><idno type="ISSN">1818-6300</idno><imprint><date when="2008" type="published">2008</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><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></keywords><keywords scheme="KwdFr" xml:lang="fr"><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></keywords><keywords scheme="MESH" qualifier="diagnosis" xml:lang="en"><term>Abnormalities, Multiple</term><term>Corneal Dystrophies, Hereditary</term><term>Fibromatosis, Gingival</term></keywords><keywords scheme="MESH" qualifier="diagnostic" xml:lang="fr"><term>Dystrophies héréditaires de la cornée</term><term>Fibromatose gingivale</term><term>Malformations multiples</term></keywords><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></keywords><keywords scheme="MESH" qualifier="imagerie diagnostique" xml:lang="fr"><term>Anodontie</term><term>Dent incluse</term><term>Malformations dentaires</term><term>Mâchoire partiellement édentée</term></keywords><keywords scheme="MESH" qualifier="rehabilitation" xml:lang="en"><term>Jaw, Edentulous, Partially</term></keywords><keywords scheme="MESH" qualifier="rééducation et réadaptation" xml:lang="fr"><term>Mâchoire partiellement édentée</term></keywords><keywords scheme="MESH" qualifier="surgery" xml:lang="en"><term>Tooth Abnormalities</term><term>Tooth, Unerupted</term></keywords><keywords scheme="MESH" qualifier="therapy" xml:lang="en"><term>Abnormalities, Multiple</term></keywords><keywords scheme="MESH" xml:lang="en"><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></keywords><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><term>Syndrome</term><term>Syndrome de Marfan</term><term>Études de suivi</term></keywords></textClass></profileDesc></teiHeader><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></front></TEI><pubmed><MedlineCitation Status="MEDLINE" Owner="NLM"><PMID Version="1">18793596</PMID><DateCompleted><Year>2009</Year><Month>01</Month><Day>09</Day></DateCompleted><DateRevised><Year>2017</Year><Month>11</Month><Day>14</Day></DateRevised><Article PubModel="Print"><Journal><ISSN IssnType="Print">1818-6300</ISSN><JournalIssue CitedMedium="Print"><Volume>9</Volume><Issue>3</Issue><PubDate><Year>2008</Year><Month>Sep</Month></PubDate></JournalIssue><Title>European archives of paediatric dentistry : official journal of the European Academy of Paediatric Dentistry</Title><ISOAbbreviation>Eur Arch Paediatr Dent</ISOAbbreviation></Journal><ArticleTitle>Case report: Rutherfurd syndrome associated with Marfan syndrome.</ArticleTitle><Pagination><MedlinePgn>138-41</MedlinePgn></Pagination><Abstract><AbstractText Label="BACKGROUND" NlmCategory="BACKGROUND">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.</AbstractText><AbstractText Label="CASE REPORT" NlmCategory="METHODS">His Consultant Clinical Geneticist referred a 2-year-old boy to the Dept. of Paediatric Dentistry at Manchester Dental Hospital. The child and his father had a diagnosis of Rutherfurd Syndrome; a rare autosomal-dominant condition featuring corneal dystrophy, gingival hypertrophy, abnormally shaped teeth and delayed eruption. The only erupted teeth were 52, 71 and 81. The patient also suffers from features of Marfan syndrome, a condition he has inherited from his mother.</AbstractText><AbstractText Label="CLINICAL MANAGEMENT" NlmCategory="UNASSIGNED">Preventive advice was provided and the patient was placed on regular review. By the age of 4 years, 52, 61, 72, 71 and 81 were the only teeth present clinically. Maxillary and mandibular dentures were provided, which he refused to wear.</AbstractText><AbstractText Label="FOLLOW-UP" NlmCategory="RESULTS">At age 8 years, 31 and 41 were erupted lingual to the primary incisors. No other permanent teeth had erupted. Radiographs revealed failure of eruption of multiple primary and permanent teeth. The second premolars had formed above the unerupted mandibular primary second molars. The patient continued to refuse any intervention. Treatment options discussed included overdentures and /or removal of primary teeth and exposure of permanent teeth.</AbstractText><AbstractText Label="CONCLUSION" NlmCategory="CONCLUSIONS">This case has presented a rare syndrome with two important dental features, namely gingival hyperplasia and failure of eruption. The case has a long term follow up of 6 years and has a first time association to Marfan syndrome. It also highlights the importance of family history and how it can affect the attitude of the child towards dental treatment.</AbstractText></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Raja</LastName><ForeName>T A</ForeName><Initials>TA</Initials><AffiliationInfo><Affiliation>Dept. Paediatric Dentistry, University Dental Hospital of Manchester, England. taiyub_raja@hotmail.com</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Albadri</LastName><ForeName>S</ForeName><Initials>S</Initials></Author><Author ValidYN="Y"><LastName>Hood</LastName><ForeName>C</ForeName><Initials>C</Initials></Author></AuthorList><Language>eng</Language><PublicationTypeList><PublicationType UI="D002363">Case Reports</PublicationType><PublicationType UI="D016428">Journal Article</PublicationType></PublicationTypeList></Article><MedlineJournalInfo><Country>England</Country><MedlineTA>Eur Arch Paediatr Dent</MedlineTA><NlmUniqueID>101277157</NlmUniqueID><ISSNLinking>1818-6300</ISSNLinking></MedlineJournalInfo><CitationSubset>D</CitationSubset><CitationSubset>IM</CitationSubset><CommentsCorrectionsList><CommentsCorrections RefType="Cites"><RefSource>Quintessence Int. 2000 Jun;31(6):415-8</RefSource><PMID Version="1">11203959</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>J Clin Periodontol. 2002 Sep;29(9):871-4</RefSource><PMID Version="1">12423302</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Int J Paediatr Dent. 2004 Jan;14(1):78-85</RefSource><PMID Version="1">14706033</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Int J Paediatr Dent. 2005 Jul;15(4):294-302</RefSource><PMID Version="1">16011789</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 2002 May;93(5):564-72</RefSource><PMID Version="1">12075206</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>J Clin Pediatr Dent. 2000 Fall;25(1):41-6</RefSource><PMID Version="1">11314351</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>J Oral Maxillofac Surg. 1988 May;46(5):415-20</RefSource><PMID Version="1">3163377</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 2007 Apr;103(4):521-7</RefSource><PMID Version="1">17395066</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>J Periodontol. 2006 May;77(5):753-64</RefSource><PMID Version="1">16671866</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Eur J Orthod. 2006 Dec;28(6):535-40</RefSource><PMID Version="1">17041084</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>J Periodontol. 2005 Jan;76(1):3-10</RefSource><PMID Version="1">15830631</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Br Med J. 1931 Jul 4;2(3678):9-11</RefSource><PMID Version="1">20776268</PMID></CommentsCorrections></CommentsCorrectionsList><MeshHeadingList><MeshHeading><DescriptorName UI="D000015" MajorTopicYN="N">Abnormalities, Multiple</DescriptorName><QualifierName UI="Q000175" MajorTopicYN="Y">diagnosis</QualifierName><QualifierName UI="Q000628" MajorTopicYN="N">therapy</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D000848" MajorTopicYN="N">Anodontia</DescriptorName><QualifierName UI="Q000000981" MajorTopicYN="Y">diagnostic imaging</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D002675" MajorTopicYN="N">Child, Preschool</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D003317" MajorTopicYN="N">Corneal Dystrophies, Hereditary</DescriptorName><QualifierName UI="Q000175" MajorTopicYN="N">diagnosis</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D003829" MajorTopicYN="N">Denture, Partial</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D005351" MajorTopicYN="N">Fibromatosis, Gingival</DescriptorName><QualifierName UI="Q000175" MajorTopicYN="Y">diagnosis</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D005500" MajorTopicYN="N">Follow-Up Studies</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D006801" MajorTopicYN="N">Humans</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D007576" MajorTopicYN="N">Jaw, Edentulous, Partially</DescriptorName><QualifierName UI="Q000000981" MajorTopicYN="N">diagnostic imaging</QualifierName><QualifierName UI="Q000534" MajorTopicYN="Y">rehabilitation</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D008297" MajorTopicYN="N">Male</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D008382" MajorTopicYN="N">Marfan Syndrome</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D011859" MajorTopicYN="N">Radiography</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D013577" MajorTopicYN="N">Syndrome</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D014071" MajorTopicYN="N">Tooth Abnormalities</DescriptorName><QualifierName UI="Q000000981" MajorTopicYN="N">diagnostic imaging</QualifierName><QualifierName UI="Q000601" MajorTopicYN="N">surgery</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D014097" MajorTopicYN="N">Tooth, Unerupted</DescriptorName><QualifierName UI="Q000000981" MajorTopicYN="N">diagnostic imaging</QualifierName><QualifierName UI="Q000601" MajorTopicYN="Y">surgery</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D016312" MajorTopicYN="N">Treatment Refusal</DescriptorName></MeshHeading></MeshHeadingList></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="pubmed"><Year>2008</Year><Month>9</Month><Day>17</Day><Hour>9</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="medline"><Year>2009</Year><Month>1</Month><Day>10</Day><Hour>9</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="entrez"><Year>2008</Year><Month>9</Month><Day>17</Day><Hour>9</Hour><Minute>0</Minute></PubMedPubDate></History><PublicationStatus>ppublish</PublicationStatus><ArticleIdList><ArticleId IdType="pubmed">18793596</ArticleId><ArticleId IdType="pii">07.53</ArticleId></ArticleIdList></PubmedData></pubmed><affiliations><list><country><li>Royaume-Uni</li></country><region><li>Angleterre</li></region></list><tree><noCountry><name sortKey="Albadri, S" sort="Albadri, S" uniqKey="Albadri S" first="S" last="Albadri">S. Albadri</name><name sortKey="Hood, C" sort="Hood, C" uniqKey="Hood C" first="C" last="Hood">C. Hood</name></noCountry><country name="Royaume-Uni"><region name="Angleterre"><name sortKey="Raja, T A" sort="Raja, T A" uniqKey="Raja T" first="T A" last="Raja">T A Raja</name></region></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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