Oral and craniofacial findings in Fabry's disease: a report of 13 patients.
Identifieur interne : 000703 ( Ncbi/Merge ); précédent : 000702; suivant : 000704Oral and craniofacial findings in Fabry's disease: a report of 13 patients.
Auteurs : L. Baccaglini [États-Unis] ; R. Schiffmann ; M T Brennan ; H E Lancaster ; A B Kulkarni ; J S BrahimSource :
- Oral surgery, oral medicine, oral pathology, oral radiology, and endodontics [ 1079-2104 ] ; 2001.
Descripteurs français
- KwdFr :
- Adulte, Adulte d'âge moyen, Angiokératome (étiologie), Céphalométrie, Humains, Kystes (étiologie), Maladie de Fabry (), Maladies de la bouche (étiologie), Maladies des sinus (étiologie), Malocclusion dentaire (étiologie), Muqueuse de la bouche (anatomopathologie), Mâchoire édentée (étiologie), Mâle, Prognathisme (étiologie), Sinus maxillaire, Tumeurs cutanées (étiologie), Xérostomie (étiologie).
- MESH :
- anatomopathologie : Muqueuse de la bouche.
- étiologie : Angiokératome, Kystes, Maladies de la bouche, Maladies des sinus, Malocclusion dentaire, Mâchoire édentée, Prognathisme, Tumeurs cutanées, Xérostomie.
- Adulte, Adulte d'âge moyen, Céphalométrie, Humains, Maladie de Fabry, Mâle, Sinus maxillaire.
English descriptors
- KwdEn :
- Adult, Angiokeratoma (etiology), Cephalometry, Cysts (etiology), Fabry Disease (complications), Humans, Jaw, Edentulous (etiology), Male, Malocclusion (etiology), Maxillary Sinus, Middle Aged, Mouth Diseases (etiology), Mouth Mucosa (pathology), Paranasal Sinus Diseases (etiology), Prognathism (etiology), Skin Neoplasms (etiology), Xerostomia (etiology).
- MESH :
- complications : Fabry Disease.
- etiology : Angiokeratoma, Cysts, Jaw, Edentulous, Malocclusion, Mouth Diseases, Paranasal Sinus Diseases, Prognathism, Skin Neoplasms, Xerostomia.
- pathology : Mouth Mucosa.
- Adult, Cephalometry, Humans, Male, Maxillary Sinus, Middle Aged.
Abstract
Fabry's disease is an X-linked metabolic disease caused by the deficiency of the lysosomal enzyme alpha-galactosidase A. The purpose of this study was to assess oral and craniofacial findings in a cohort of patients with Fabry's disease to facilitate recognition of this condition and early treatment of its manifestations.
DOI: 10.1067/moe.2001.114833
PubMed: 11598576
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Schiffmann</name></author><author><name sortKey="Brennan, M T" sort="Brennan, M T" uniqKey="Brennan M" first="M T" last="Brennan">M T Brennan</name></author><author><name sortKey="Lancaster, H E" sort="Lancaster, H E" uniqKey="Lancaster H" first="H E" last="Lancaster">H E Lancaster</name></author><author><name sortKey="Kulkarni, A B" sort="Kulkarni, A B" uniqKey="Kulkarni A" first="A B" last="Kulkarni">A B Kulkarni</name></author><author><name sortKey="Brahim, J S" sort="Brahim, J S" uniqKey="Brahim J" first="J S" last="Brahim">J S Brahim</name></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2001">2001</date><idno type="RBID">pubmed:11598576</idno><idno type="pmid">11598576</idno><idno type="doi">10.1067/moe.2001.114833</idno><idno type="wicri:Area/PubMed/Corpus">003394</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Corpus" wicri:corpus="PubMed">003394</idno><idno type="wicri:Area/PubMed/Curation">003394</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Curation">003394</idno><idno type="wicri:Area/PubMed/Checkpoint">003394</idno><idno type="wicri:explorRef" wicri:stream="Checkpoint" wicri:step="PubMed">003394</idno><idno type="wicri:Area/Ncbi/Merge">000703</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">Oral and craniofacial findings in Fabry's disease: a report of 13 patients.</title><author><name sortKey="Baccaglini, L" sort="Baccaglini, L" uniqKey="Baccaglini L" first="L" last="Baccaglini">L. Baccaglini</name><affiliation wicri:level="1"><nlm:affiliation>National Institute of Dental and Craniofacial Research, National Insitutes of Health, Bethesda, MD, USA. Epi.bacclore@unc.edu</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>National Institute of Dental and Craniofacial Research, National Insitutes of Health, Bethesda, MD</wicri:regionArea><wicri:noRegion>MD</wicri:noRegion></affiliation></author><author><name sortKey="Schiffmann, R" sort="Schiffmann, R" uniqKey="Schiffmann R" first="R" last="Schiffmann">R. Schiffmann</name></author><author><name sortKey="Brennan, M T" sort="Brennan, M T" uniqKey="Brennan M" first="M T" last="Brennan">M T Brennan</name></author><author><name sortKey="Lancaster, H E" sort="Lancaster, H E" uniqKey="Lancaster H" first="H E" last="Lancaster">H E Lancaster</name></author><author><name sortKey="Kulkarni, A B" sort="Kulkarni, A B" uniqKey="Kulkarni A" first="A B" last="Kulkarni">A B Kulkarni</name></author><author><name sortKey="Brahim, J S" sort="Brahim, J S" uniqKey="Brahim J" first="J S" last="Brahim">J S Brahim</name></author></analytic><series><title level="j">Oral surgery, oral medicine, oral pathology, oral radiology, and endodontics</title><idno type="ISSN">1079-2104</idno><imprint><date when="2001" type="published">2001</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adult</term><term>Angiokeratoma (etiology)</term><term>Cephalometry</term><term>Cysts (etiology)</term><term>Fabry Disease (complications)</term><term>Humans</term><term>Jaw, Edentulous (etiology)</term><term>Male</term><term>Malocclusion (etiology)</term><term>Maxillary Sinus</term><term>Middle Aged</term><term>Mouth Diseases (etiology)</term><term>Mouth Mucosa (pathology)</term><term>Paranasal Sinus Diseases (etiology)</term><term>Prognathism (etiology)</term><term>Skin Neoplasms (etiology)</term><term>Xerostomia (etiology)</term></keywords><keywords scheme="KwdFr" xml:lang="fr"><term>Adulte</term><term>Adulte d'âge moyen</term><term>Angiokératome (étiologie)</term><term>Céphalométrie</term><term>Humains</term><term>Kystes (étiologie)</term><term>Maladie de Fabry ()</term><term>Maladies de la bouche (étiologie)</term><term>Maladies des sinus (étiologie)</term><term>Malocclusion dentaire (étiologie)</term><term>Muqueuse de la bouche (anatomopathologie)</term><term>Mâchoire édentée (étiologie)</term><term>Mâle</term><term>Prognathisme (étiologie)</term><term>Sinus maxillaire</term><term>Tumeurs cutanées (étiologie)</term><term>Xérostomie (étiologie)</term></keywords><keywords scheme="MESH" qualifier="anatomopathologie" xml:lang="fr"><term>Muqueuse de la bouche</term></keywords><keywords scheme="MESH" qualifier="complications" xml:lang="en"><term>Fabry Disease</term></keywords><keywords scheme="MESH" qualifier="etiology" xml:lang="en"><term>Angiokeratoma</term><term>Cysts</term><term>Jaw, Edentulous</term><term>Malocclusion</term><term>Mouth Diseases</term><term>Paranasal Sinus Diseases</term><term>Prognathism</term><term>Skin Neoplasms</term><term>Xerostomia</term></keywords><keywords scheme="MESH" qualifier="pathology" xml:lang="en"><term>Mouth Mucosa</term></keywords><keywords scheme="MESH" qualifier="étiologie" xml:lang="fr"><term>Angiokératome</term><term>Kystes</term><term>Maladies de la bouche</term><term>Maladies des sinus</term><term>Malocclusion dentaire</term><term>Mâchoire édentée</term><term>Prognathisme</term><term>Tumeurs cutanées</term><term>Xérostomie</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adult</term><term>Cephalometry</term><term>Humans</term><term>Male</term><term>Maxillary Sinus</term><term>Middle Aged</term></keywords><keywords scheme="MESH" xml:lang="fr"><term>Adulte</term><term>Adulte d'âge moyen</term><term>Céphalométrie</term><term>Humains</term><term>Maladie de Fabry</term><term>Mâle</term><term>Sinus maxillaire</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Fabry's disease is an X-linked metabolic disease caused by the deficiency of the lysosomal enzyme alpha-galactosidase A. The purpose of this study was to assess oral and craniofacial findings in a cohort of patients with Fabry's disease to facilitate recognition of this condition and early treatment of its manifestations.</div></front></TEI><pubmed><MedlineCitation Status="MEDLINE" Owner="NLM"><PMID Version="1">11598576</PMID><DateCompleted><Year>2002</Year><Month>01</Month><Day>08</Day></DateCompleted><DateRevised><Year>2004</Year><Month>11</Month><Day>17</Day></DateRevised><Article PubModel="Print"><Journal><ISSN IssnType="Print">1079-2104</ISSN><JournalIssue CitedMedium="Print"><Volume>92</Volume><Issue>4</Issue><PubDate><Year>2001</Year><Month>Oct</Month></PubDate></JournalIssue><Title>Oral surgery, oral medicine, oral pathology, oral radiology, and endodontics</Title><ISOAbbreviation>Oral Surg Oral Med Oral Pathol Oral Radiol Endod</ISOAbbreviation></Journal><ArticleTitle>Oral and craniofacial findings in Fabry's disease: a report of 13 patients.</ArticleTitle><Pagination><MedlinePgn>415-9</MedlinePgn></Pagination><Abstract><AbstractText Label="OBJECTIVE" NlmCategory="OBJECTIVE">Fabry's disease is an X-linked metabolic disease caused by the deficiency of the lysosomal enzyme alpha-galactosidase A. The purpose of this study was to assess oral and craniofacial findings in a cohort of patients with Fabry's disease to facilitate recognition of this condition and early treatment of its manifestations.</AbstractText><AbstractText Label="STUDY DESIGN" NlmCategory="METHODS">This is a case series describing oral and craniofacial findings of 13 male patients diagnosed with Fabry's disease. Data were collected by means of a standardized questionnaire, clinical examination, panoramic and cephalometric radiographs, and magnetic resonance imaging.</AbstractText><AbstractText Label="RESULTS" NlmCategory="RESULTS">A variety of abnormalities are described, including an increased prevalence of cysts/pseudocysts of the maxillary sinuses (PCMs) and the presence of maxillary prognathism.</AbstractText><AbstractText Label="CONCLUSION" NlmCategory="CONCLUSIONS">Given the high prevalence of oral and dental abnormalities, we recommend a thorough stomatologic evaluation of these patients.</AbstractText></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Baccaglini</LastName><ForeName>L</ForeName><Initials>L</Initials><AffiliationInfo><Affiliation>National Institute of Dental and Craniofacial Research, National Insitutes of Health, Bethesda, MD, USA. Epi.bacclore@unc.edu</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Schiffmann</LastName><ForeName>R</ForeName><Initials>R</Initials></Author><Author ValidYN="Y"><LastName>Brennan</LastName><ForeName>M T</ForeName><Initials>MT</Initials></Author><Author ValidYN="Y"><LastName>Lancaster</LastName><ForeName>H E</ForeName><Initials>HE</Initials><Suffix>Jr</Suffix></Author><Author ValidYN="Y"><LastName>Kulkarni</LastName><ForeName>A B</ForeName><Initials>AB</Initials></Author><Author ValidYN="Y"><LastName>Brahim</LastName><ForeName>J S</ForeName><Initials>JS</Initials></Author></AuthorList><Language>eng</Language><PublicationTypeList><PublicationType UI="D016428">Journal Article</PublicationType></PublicationTypeList></Article><MedlineJournalInfo><Country>United States</Country><MedlineTA>Oral Surg Oral Med Oral Pathol Oral Radiol Endod</MedlineTA><NlmUniqueID>9508562</NlmUniqueID><ISSNLinking>1079-2104</ISSNLinking></MedlineJournalInfo><CitationSubset>D</CitationSubset><CitationSubset>IM</CitationSubset><MeshHeadingList><MeshHeading><DescriptorName UI="D000328" MajorTopicYN="N">Adult</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D000794" MajorTopicYN="N">Angiokeratoma</DescriptorName><QualifierName UI="Q000209" MajorTopicYN="N">etiology</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D002508" MajorTopicYN="N">Cephalometry</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D003560" MajorTopicYN="N">Cysts</DescriptorName><QualifierName UI="Q000209" MajorTopicYN="N">etiology</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D000795" MajorTopicYN="N">Fabry Disease</DescriptorName><QualifierName UI="Q000150" MajorTopicYN="Y">complications</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D006801" MajorTopicYN="N">Humans</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D007575" MajorTopicYN="N">Jaw, Edentulous</DescriptorName><QualifierName UI="Q000209" MajorTopicYN="N">etiology</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D008297" MajorTopicYN="N">Male</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D008310" MajorTopicYN="N">Malocclusion</DescriptorName><QualifierName UI="Q000209" MajorTopicYN="N">etiology</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D008443" MajorTopicYN="N">Maxillary Sinus</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D008875" MajorTopicYN="N">Middle Aged</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D009059" MajorTopicYN="N">Mouth Diseases</DescriptorName><QualifierName UI="Q000209" MajorTopicYN="Y">etiology</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D009061" MajorTopicYN="N">Mouth Mucosa</DescriptorName><QualifierName UI="Q000473" MajorTopicYN="N">pathology</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D010254" MajorTopicYN="N">Paranasal Sinus Diseases</DescriptorName><QualifierName UI="Q000209" MajorTopicYN="Y">etiology</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D011378" MajorTopicYN="N">Prognathism</DescriptorName><QualifierName UI="Q000209" MajorTopicYN="N">etiology</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D012878" MajorTopicYN="N">Skin Neoplasms</DescriptorName><QualifierName UI="Q000209" MajorTopicYN="N">etiology</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D014987" MajorTopicYN="N">Xerostomia</DescriptorName><QualifierName UI="Q000209" MajorTopicYN="N">etiology</QualifierName></MeshHeading></MeshHeadingList></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="pubmed"><Year>2001</Year><Month>10</Month><Day>13</Day><Hour>10</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="medline"><Year>2002</Year><Month>1</Month><Day>10</Day><Hour>10</Hour><Minute>1</Minute></PubMedPubDate><PubMedPubDate PubStatus="entrez"><Year>2001</Year><Month>10</Month><Day>13</Day><Hour>10</Hour><Minute>0</Minute></PubMedPubDate></History><PublicationStatus>ppublish</PublicationStatus><ArticleIdList><ArticleId IdType="pubmed">11598576</ArticleId><ArticleId IdType="pii">S1079-2104(01)02670-1</ArticleId><ArticleId IdType="doi">10.1067/moe.2001.114833</ArticleId></ArticleIdList></PubmedData></pubmed><affiliations><list><country><li>États-Unis</li></country></list><tree><noCountry><name sortKey="Brahim, J S" sort="Brahim, J S" uniqKey="Brahim J" first="J S" last="Brahim">J S Brahim</name><name sortKey="Brennan, M T" sort="Brennan, M T" uniqKey="Brennan M" first="M T" last="Brennan">M T Brennan</name><name sortKey="Kulkarni, A B" sort="Kulkarni, A B" uniqKey="Kulkarni A" first="A B" last="Kulkarni">A B Kulkarni</name><name sortKey="Lancaster, H E" sort="Lancaster, H E" uniqKey="Lancaster H" first="H E" last="Lancaster">H E Lancaster</name><name sortKey="Schiffmann, R" sort="Schiffmann, R" uniqKey="Schiffmann R" first="R" last="Schiffmann">R. Schiffmann</name></noCountry><country name="États-Unis"><noRegion><name sortKey="Baccaglini, L" sort="Baccaglini, L" uniqKey="Baccaglini L" first="L" last="Baccaglini">L. Baccaglini</name></noRegion></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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