GAPO syndrome: first Egyptian case with ultrastructural changes in the gingiva
Identifieur interne : 004905 ( Istex/Corpus ); précédent : 004904; suivant : 004906GAPO syndrome: first Egyptian case with ultrastructural changes in the gingiva
Auteurs : Nagwa A. Meguid ; Hanan H. Afifi ; Magda I. Ramzy ; Amina Hindawy ; Samia A. TemtamySource :
- Clinical Genetics [ 0009-9163 ] ; 1997-08.
English descriptors
- KwdEn :
- Alopecia, Anderson pindborg, Anomaly, Anterior fontanelle, Biopsy, Deep parietal, Different families, Ectodermal dysplasia, Endothelial, Endothelial cells, Endothelial vacuolisation, Excessive collagen fibres, Extracellular, Facial palsy, Fibre, First case, First egyptian case, Fontanelle, Frontal bossing, Gagliardi, Gapo, Gapo syndrome, Genet, Gingiva, Gingival, Gingival biopsy, Gorlin, Growth retardation, High forehead, Hyaline material, Meguid, Moriya, National research centre, Occipital periventricular region, Optic, Optic atrophy, Optic nerve, Permanent teeth, Phadke, Pindborg, Present case, Pseudoanodontia, Same family, Sandgren, Sayli, Silva, Skin biopsy, Sparse eyebrows, Subepithelial layer, Syndrome, Thick alveolar ridges, Thick everted, Tipton, Tipton gorlin, Ultrastructural changes, Unerupted deciduous, Upper eyelids, Wajntal.
- Teeft :
- Alopecia, Anderson pindborg, Anomaly, Anterior fontanelle, Biopsy, Deep parietal, Different families, Ectodermal dysplasia, Endothelial, Endothelial cells, Endothelial vacuolisation, Excessive collagen fibres, Extracellular, Facial palsy, Fibre, First case, First egyptian case, Fontanelle, Frontal bossing, Gagliardi, Gapo, Gapo syndrome, Genet, Gingiva, Gingival, Gingival biopsy, Gorlin, Growth retardation, High forehead, Hyaline material, Meguid, Moriya, National research centre, Occipital periventricular region, Optic, Optic atrophy, Optic nerve, Permanent teeth, Phadke, Pindborg, Present case, Pseudoanodontia, Same family, Sandgren, Sayli, Silva, Skin biopsy, Sparse eyebrows, Subepithelial layer, Syndrome, Thick alveolar ridges, Thick everted, Tipton, Tipton gorlin, Ultrastructural changes, Unerupted deciduous, Upper eyelids, Wajntal.
Abstract
We report on a 3‐year‐old boy with growth retardation, alopecia, pseudoanodontia, and optic atrophy. This is the 18th known and the first Egyptian case of GAPO syndrome. Electron microscopic examination of gingival biopsy showed excessive collagen fibres and endothelial vacuolisation, suggesting involvement of extracellular pathological collagenosis.
Url:
DOI: 10.1111/j.1399-0004.1997.tb02527.x
Links to Exploration step
ISTEX:9216BCB1BCBCC7F318221034890C7AD9FED31DCALe document en format XML
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This is the 18th known and the first Egyptian case of GAPO syndrome. Electron microscopic examination of gingival biopsy showed excessive collagen fibres and endothelial vacuolisation, suggesting involvement of extracellular pathological collagenosis.</div></front></TEI><istex><corpusName>wiley</corpusName><keywords><teeft><json:string>gapo</json:string><json:string>gapo syndrome</json:string><json:string>optic</json:string><json:string>alopecia</json:string><json:string>genet</json:string><json:string>syndrome</json:string><json:string>pseudoanodontia</json:string><json:string>optic atrophy</json:string><json:string>wajntal</json:string><json:string>sayli</json:string><json:string>pindborg</json:string><json:string>fibre</json:string><json:string>gagliardi</json:string><json:string>growth retardation</json:string><json:string>fontanelle</json:string><json:string>extracellular</json:string><json:string>tipton</json:string><json:string>gorlin</json:string><json:string>meguid</json:string><json:string>anderson pindborg</json:string><json:string>gingival</json:string><json:string>tipton gorlin</json:string><json:string>phadke</json:string><json:string>sandgren</json:string><json:string>first egyptian case</json:string><json:string>anterior fontanelle</json:string><json:string>moriya</json:string><json:string>gingiva</json:string><json:string>silva</json:string><json:string>biopsy</json:string><json:string>skin biopsy</json:string><json:string>permanent teeth</json:string><json:string>thick everted</json:string><json:string>endothelial vacuolisation</json:string><json:string>different families</json:string><json:string>excessive collagen fibres</json:string><json:string>same family</json:string><json:string>gingival biopsy</json:string><json:string>frontal bossing</json:string><json:string>ultrastructural changes</json:string><json:string>facial palsy</json:string><json:string>upper eyelids</json:string><json:string>sparse eyebrows</json:string><json:string>high forehead</json:string><json:string>thick alveolar ridges</json:string><json:string>national research centre</json:string><json:string>unerupted deciduous</json:string><json:string>deep parietal</json:string><json:string>occipital periventricular region</json:string><json:string>subepithelial layer</json:string><json:string>endothelial cells</json:string><json:string>first case</json:string><json:string>optic nerve</json:string><json:string>ectodermal dysplasia</json:string><json:string>present case</json:string><json:string>hyaline material</json:string><json:string>anomaly</json:string><json:string>endothelial</json:string></teeft></keywords><author><json:item><name>Nagwa A. 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This is the 18th known and the first Egyptian case of GAPO syndrome. Electron microscopic examination of gingival biopsy showed excessive collagen fibres and endothelial vacuolisation, suggesting involvement of extracellular pathological collagenosis.</abstract><qualityIndicators><score>4.473</score><pdfWordCount>1921</pdfWordCount><pdfCharCount>12035</pdfCharCount><pdfVersion>1.3</pdfVersion><pdfPageCount>6</pdfPageCount><pdfPageSize>648 x 864 pts</pdfPageSize><refBibsNative>true</refBibsNative><abstractWordCount>46</abstractWordCount><abstractCharCount>352</abstractCharCount><keywordCount>6</keywordCount></qualityIndicators><title>GAPO syndrome: first Egyptian case with ultrastructural changes in the gingiva</title><genre><json:string>case-report</json:string></genre><host><title>Clinical Genetics</title><language><json:string>unknown</json:string></language><doi><json:string>10.1111/(ISSN)1399-0004</json:string></doi><issn><json:string>0009-9163</json:string></issn><eissn><json:string>1399-0004</json:string></eissn><publisherId><json:string>CGE</json:string></publisherId><volume>52</volume><issue>2</issue><pages><first>110</first><last>115</last><total>6</total></pages><genre><json:string>journal</json:string></genre></host><namedEntities><unitex><date><json:string>1997</json:string><json:string>1947</json:string></date><geogName></geogName><orgName></orgName><orgName_funder></orgName_funder><orgName_provider></orgName_provider><persName><json:string>Samia</json:string><json:string>Autopsy</json:string><json:string>Wajntal</json:string><json:string>Hanan H. Afifi</json:string><json:string>Amina Hindawy</json:string></persName><placeName><json:string>Cairo</json:string><json:string>Egypt</json:string></placeName><ref_url></ref_url><ref_bibl><json:string>Krieger 1972</json:string><json:string>Moriya et al. 1995</json:string><json:string>Phadke et al. ( 1994)</json:string><json:string>Andersen & Pindborg 1947</json:string><json:string>Russell et al. 1992</json:string><json:string>Sayli & Gul 1993</json:string><json:string>Gorlin ( 1984)</json:string><json:string>Meguid et al.</json:string><json:string>Manouvrier-Hanu et al. 1987</json:string><json:string>Pindborg (1947)</json:string><json:string>Wajntal et al. 1990</json:string><json:string>Phadke et al. 1994</json:string><json:string>Gagliardi et al. 1984</json:string><json:string>Sandgren 1995</json:string><json:string>Moriya et al. (1995)</json:string><json:string>Wajntal et al. (1990)</json:string></ref_bibl><bibl></bibl></unitex></namedEntities><ark><json:string>ark:/67375/WNG-4SXMZGMK-8</json:string></ark><categories><wos><json:string>1 - science</json:string><json:string>2 - genetics & heredity</json:string></wos><scienceMetrix><json:string>1 - health sciences</json:string><json:string>2 - biomedical research</json:string><json:string>3 - genetics & heredity</json:string></scienceMetrix><scopus><json:string>1 - Health Sciences</json:string><json:string>2 - Medicine</json:string><json:string>3 - Genetics(clinical)</json:string><json:string>1 - Life Sciences</json:string><json:string>2 - Biochemistry, Genetics and Molecular Biology</json:string><json:string>3 - Genetics</json:string></scopus><inist><json:string>1 - sciences appliquees, technologies et medecines</json:string><json:string>2 - sciences biologiques et medicales</json:string><json:string>3 - sciences medicales</json:string></inist></categories><publicationDate>1997</publicationDate><copyrightDate>1997</copyrightDate><doi><json:string>10.1111/j.1399-0004.1997.tb02527.x</json:string></doi><id>9216BCB1BCBCC7F318221034890C7AD9FED31DCA</id><score>1</score><fulltext><json:item><extension>pdf</extension><original>true</original><mimetype>application/pdf</mimetype><uri>https://api.istex.fr/document/9216BCB1BCBCC7F318221034890C7AD9FED31DCA/fulltext/pdf</uri></json:item><json:item><extension>zip</extension><original>false</original><mimetype>application/zip</mimetype><uri>https://api.istex.fr/document/9216BCB1BCBCC7F318221034890C7AD9FED31DCA/fulltext/zip</uri></json:item><istex:fulltextTEI uri="https://api.istex.fr/document/9216BCB1BCBCC7F318221034890C7AD9FED31DCA/fulltext/tei"><teiHeader><fileDesc><titleStmt><title level="a" type="main">GAPO syndrome: first Egyptian case with ultrastructural changes in the gingiva</title></titleStmt><publicationStmt><authority>ISTEX</authority><publisher>Blackwell Publishing Ltd</publisher><pubPlace>Oxford, UK</pubPlace><date type="published" when="1997-08"></date></publicationStmt><notesStmt><note type="content-type" subtype="case-report" source="caseStudy" scheme="https://content-type.data.istex.fr/ark:/67375/XTP-29919SZJ-6">case-report</note><note type="publication-type" subtype="journal" scheme="https://publication-type.data.istex.fr/ark:/67375/JMC-0GLKJH51-B">journal</note></notesStmt><sourceDesc><biblStruct type="case-report"><analytic><title level="a" type="main">GAPO syndrome: first Egyptian case with ultrastructural changes in the gingiva</title><author xml:id="author-0000" role="corresp"><persName><forename type="first">Nagwa A.</forename><surname>Meguid</surname></persName><affiliation>Human Genetics Department, National Research Centre, Cairo, Egypt<address><country key="EG"></country></address></affiliation><affiliation>Human Genetics Dept., National Research Centre, Tahrir Street, Ookki. Giza, Egypt</affiliation></author><author xml:id="author-0001"><persName><forename type="first">Hanan H.</forename><surname>Afifi</surname></persName><affiliation>Human Genetics Department, National Research Centre, Cairo, Egypt<address><country key="EG"></country></address></affiliation></author><author xml:id="author-0002"><persName><forename type="first">Magda I.</forename><surname>Ramzy</surname></persName><affiliation>Human Genetics Department, National Research Centre, Cairo, Egypt<address><country key="EG"></country></address></affiliation></author><author xml:id="author-0003"><persName><forename type="first">Amina</forename><surname>Hindawy</surname></persName><affiliation>Human Genetics Department, National Research Centre, Cairo, Egypt<address><country key="EG"></country></address></affiliation></author><author xml:id="author-0004"><persName><forename type="first">Samia A.</forename><surname>Temtamy</surname></persName><affiliation>Human Genetics Department, National Research Centre, Cairo, Egypt<address><country key="EG"></country></address></affiliation></author><idno type="istex">9216BCB1BCBCC7F318221034890C7AD9FED31DCA</idno><idno type="ark">ark:/67375/WNG-4SXMZGMK-8</idno><idno type="DOI">10.1111/j.1399-0004.1997.tb02527.x</idno><idno type="unit">CGE110</idno><idno type="toTypesetVersion">file:CGE.CGE110.pdf</idno></analytic><monogr><title level="j" type="main">Clinical Genetics</title><title level="j" type="alt">CLINICAL GENETICS</title><idno type="pISSN">0009-9163</idno><idno type="eISSN">1399-0004</idno><idno type="book-DOI">10.1111/(ISSN)1399-0004</idno><idno type="book-part-DOI">10.1111/cge.1997.52.issue-2</idno><idno type="product">CGE</idno><idno type="publisherDivision">ST</idno><imprint><biblScope unit="vol">52</biblScope><biblScope unit="issue">2</biblScope><biblScope unit="page" from="110">110</biblScope><biblScope unit="page" to="115">115</biblScope><biblScope unit="page-count">6</biblScope><publisher>Blackwell Publishing Ltd</publisher><pubPlace>Oxford, UK</pubPlace><date type="published" when="1997-08"></date></imprint></monogr></biblStruct></sourceDesc></fileDesc><profileDesc><abstract xml:lang="en" style="main"><p>We report on a 3‐year‐old boy with growth retardation, alopecia, pseudoanodontia, and optic atrophy. This is the 18th known and the first Egyptian case of GAPO syndrome. Electron microscopic examination of gingival biopsy showed excessive collagen fibres and endothelial vacuolisation, suggesting involvement of extracellular pathological collagenosis.</p></abstract><textClass><keywords xml:lang="en"><term xml:id="k1">Arab descent</term><term xml:id="k2">extracellular collagenosis</term><term xml:id="k3">GAPO syndrome</term><term xml:id="k4">first Egyptian case</term><term xml:id="k5">gingival biopsy</term><term xml:id="k6">ocular manifestation</term></keywords><keywords rend="tocHeading1"><term>Case Report</term></keywords></textClass><langUsage><language ident="en"></language></langUsage></profileDesc></teiHeader></istex:fulltextTEI><json:item><extension>txt</extension><original>false</original><mimetype>text/plain</mimetype><uri>https://api.istex.fr/document/9216BCB1BCBCC7F318221034890C7AD9FED31DCA/fulltext/txt</uri></json:item></fulltext><metadata><istex:metadataXml wicri:clean="Wiley, elements deleted: body"><istex:xmlDeclaration>version="1.0" encoding="UTF-8" standalone="yes"</istex:xmlDeclaration><istex:document><component version="2.0" type="serialArticle" xml:lang="en"><header><publicationMeta level="product"><publisherInfo><publisherName>Blackwell Publishing Ltd</publisherName><publisherLoc>Oxford, UK</publisherLoc></publisherInfo><doi origin="wiley" registered="yes">10.1111/(ISSN)1399-0004</doi><issn type="print">0009-9163</issn><issn type="electronic">1399-0004</issn><idGroup><id type="product" value="CGE"></id><id type="publisherDivision" value="ST"></id></idGroup><titleGroup><title type="main" sort="CLINICAL GENETICS">Clinical Genetics</title></titleGroup></publicationMeta><publicationMeta level="part" position="08002"><doi origin="wiley">10.1111/cge.1997.52.issue-2</doi><numberingGroup><numbering type="journalVolume" number="52">52</numbering><numbering type="journalIssue" number="2">2</numbering></numberingGroup><coverDate startDate="1997-08">August 1997</coverDate></publicationMeta><publicationMeta level="unit" type="caseStudy" position="0011000" status="forIssue"><doi origin="wiley">10.1111/j.1399-0004.1997.tb02527.x</doi><idGroup><id type="unit" value="CGE110"></id></idGroup><countGroup><count type="pageTotal" number="6"></count></countGroup><titleGroup><title type="tocHeading1">Case Report</title></titleGroup><eventGroup><event type="firstOnline" date="2008-06-28"></event><event type="publishedOnlineFinalForm" date="2008-06-28"></event><event type="xmlConverted" agent="Converter:BPG_TO_WML3G version:2.3.6 mode:FullText source:HeaderRef result:HeaderRef" date="2010-04-21"></event><event type="xmlConverted" agent="Converter:WILEY_ML3G_TO_WILEY_ML3GV2 version:3.8.8" date="2014-01-09"></event><event type="xmlConverted" agent="Converter:WML3G_To_WML3G version:4.1.7 mode:FullText,remove_FC" date="2014-10-16"></event></eventGroup><numberingGroup><numbering type="pageFirst" number="110">110</numbering><numbering type="pageLast" number="115">115</numbering></numberingGroup><correspondenceTo>Human Genetics Dept., National Research Centre, Tahrir Street, Ookki. Giza, Egypt</correspondenceTo><linkGroup><link type="toTypesetVersion" href="file:CGE.CGE110.pdf"></link></linkGroup></publicationMeta><contentMeta><unparsedEditorialHistory>Received in revised version 2 April, accepted for publication 3 April 1997</unparsedEditorialHistory><countGroup><count type="referenceTotal" number="15"></count><count type="linksCrossRef" number="6"></count></countGroup><titleGroup><title type="main">GAPO syndrome: first Egyptian case with ultrastructural changes in the gingiva</title></titleGroup><creators><creator creatorRole="author" xml:id="cr1" affiliationRef="#a1" corresponding="yes"><personName><givenNames>Nagwa A.</givenNames><familyName>Meguid</familyName></personName></creator><creator creatorRole="author" xml:id="cr2" affiliationRef="#a1"><personName><givenNames>Hanan H.</givenNames><familyName>Afifi</familyName></personName></creator><creator creatorRole="author" xml:id="cr3" affiliationRef="#a1"><personName><givenNames>Magda I.</givenNames><familyName>Ramzy</familyName></personName></creator><creator creatorRole="author" xml:id="cr4" affiliationRef="#a1"><personName><givenNames>Amina</givenNames><familyName>Hindawy</familyName></personName></creator><creator creatorRole="author" xml:id="cr5" affiliationRef="#a1"><personName><givenNames>Samia A.</givenNames><familyName>Temtamy</familyName></personName></creator></creators><affiliationGroup><affiliation xml:id="a1" countryCode="EG"><unparsedAffiliation>Human Genetics Department, National Research Centre, Cairo, Egypt</unparsedAffiliation></affiliation></affiliationGroup><keywordGroup xml:lang="en"><keyword xml:id="k1">Arab descent</keyword><keyword xml:id="k2">extracellular collagenosis</keyword><keyword xml:id="k3">GAPO syndrome</keyword><keyword xml:id="k4">first Egyptian case</keyword><keyword xml:id="k5">gingival biopsy</keyword><keyword xml:id="k6">ocular manifestation</keyword></keywordGroup><abstractGroup><abstract type="main" xml:lang="en"><p>We report on a 3‐year‐old boy with growth retardation, alopecia, pseudoanodontia, and optic atrophy. This is the 18th known and the first Egyptian case of GAPO syndrome. Electron microscopic examination of gingival biopsy showed excessive collagen fibres and endothelial vacuolisation, suggesting involvement of extracellular pathological collagenosis.</p></abstract></abstractGroup></contentMeta></header></component></istex:document></istex:metadataXml><mods version="3.6"><titleInfo lang="en"><title>GAPO syndrome: first Egyptian case with ultrastructural changes in the gingiva</title></titleInfo><titleInfo type="alternative" contentType="CDATA" lang="en"><title>GAPO syndrome: first Egyptian case with ultrastructural changes in the gingiva</title></titleInfo><name type="personal"><namePart type="given">Nagwa A.</namePart><namePart type="family">Meguid</namePart><affiliation>Human Genetics Department, National Research Centre, Cairo, Egypt</affiliation><affiliation>Correspondence address: Human Genetics Dept., National Research Centre, Tahrir Street, Ookki. Giza, Egypt</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Hanan H.</namePart><namePart type="family">Afifi</namePart><affiliation>Human Genetics Department, National Research Centre, Cairo, Egypt</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Magda I.</namePart><namePart type="family">Ramzy</namePart><affiliation>Human Genetics Department, National Research Centre, Cairo, Egypt</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Amina</namePart><namePart type="family">Hindawy</namePart><affiliation>Human Genetics Department, National Research Centre, Cairo, Egypt</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Samia A.</namePart><namePart type="family">Temtamy</namePart><affiliation>Human Genetics Department, National Research Centre, Cairo, Egypt</affiliation><role><roleTerm type="text">author</roleTerm></role></name><typeOfResource>text</typeOfResource><genre type="case-report" displayLabel="caseStudy" authority="ISTEX" authorityURI="https://content-type.data.istex.fr" valueURI="https://content-type.data.istex.fr/ark:/67375/XTP-29919SZJ-6">case-report</genre><originInfo><publisher>Blackwell Publishing Ltd</publisher><place><placeTerm type="text">Oxford, UK</placeTerm></place><dateIssued encoding="w3cdtf">1997-08</dateIssued><edition>Received in revised version 2 April, accepted for publication 3 April 1997</edition><copyrightDate encoding="w3cdtf">1997</copyrightDate></originInfo><language><languageTerm type="code" authority="rfc3066">en</languageTerm><languageTerm type="code" authority="iso639-2b">eng</languageTerm></language><physicalDescription><extent unit="references">15</extent><extent unit="linksCrossRef">6</extent></physicalDescription><abstract lang="en">We report on a 3‐year‐old boy with growth retardation, alopecia, pseudoanodontia, and optic atrophy. This is the 18th known and the first Egyptian case of GAPO syndrome. Electron microscopic examination of gingival biopsy showed excessive collagen fibres and endothelial vacuolisation, suggesting involvement of extracellular pathological collagenosis.</abstract><subject lang="en"><genre>keywords</genre><topic>Arab descent</topic><topic>extracellular collagenosis</topic><topic>GAPO syndrome</topic><topic>first Egyptian case</topic><topic>gingival biopsy</topic><topic>ocular manifestation</topic></subject><relatedItem type="host"><titleInfo><title>Clinical Genetics</title></titleInfo><genre type="journal" authority="ISTEX" authorityURI="https://publication-type.data.istex.fr" valueURI="https://publication-type.data.istex.fr/ark:/67375/JMC-0GLKJH51-B">journal</genre><identifier type="ISSN">0009-9163</identifier><identifier type="eISSN">1399-0004</identifier><identifier type="DOI">10.1111/(ISSN)1399-0004</identifier><identifier type="PublisherID">CGE</identifier><part><date>1997</date><detail type="volume"><caption>vol.</caption><number>52</number></detail><detail type="issue"><caption>no.</caption><number>2</number></detail><extent unit="pages"><start>110</start><end>115</end><total>6</total></extent></part></relatedItem><identifier type="istex">9216BCB1BCBCC7F318221034890C7AD9FED31DCA</identifier><identifier type="ark">ark:/67375/WNG-4SXMZGMK-8</identifier><identifier type="DOI">10.1111/j.1399-0004.1997.tb02527.x</identifier><identifier type="ArticleID">CGE110</identifier><recordInfo><recordContentSource authority="ISTEX" authorityURI="https://loaded-corpus.data.istex.fr" valueURI="https://loaded-corpus.data.istex.fr/ark:/67375/XBH-L0C46X92-X">wiley</recordContentSource><recordOrigin>Blackwell Publishing Ltd</recordOrigin></recordInfo></mods><json:item><extension>json</extension><original>false</original><mimetype>application/json</mimetype><uri>https://api.istex.fr/document/9216BCB1BCBCC7F318221034890C7AD9FED31DCA/metadata/json</uri></json:item></metadata><serie></serie></istex></record>Pour manipuler ce document sous Unix (Dilib)
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