Arthro-dento-osteo dysplasia (Hajdu-Cheney syndrome)
Identifieur interne : 007953 ( Istex/Corpus ); précédent : 007952; suivant : 007954Arthro-dento-osteo dysplasia (Hajdu-Cheney syndrome)
Auteurs : Jürgen Herrmann ; Frederick T. Zugibe ; Enid F. Gilbert ; John M. OpitzSource :
- Zeitschrift für Kinderheilkunde [ 0178-4919 ] ; 1973-06-01.
English descriptors
- KwdEn :
- Adod, Anterior fontanelle, Bilateral inguinal herniae, Birth defects orig, Bone formation, Clinical manifestations, Connective tissue, Cranial, Cranial sutures, Distal phalanges, Dysplasia, Early loss, Epiphyseal lines, Expiratory wheezes, Fifth finger, Fingernail, Fracture, Frontal sinuses, Generalized osteoporosis, Genetic etiology, Herrmann, Intervertebral discs, Joint laxity, Laboratory data, Lamina dura, Laxity, Lesion, Long bones, Mandibular teeth, Manifestation, Massive osteolysis, Middle phalanges, Modelling, Multiple fractures, Multiple wormian bones, Osteolysis, Osteoporosis, Peculiar facies, Phalange, Plump modelling, Posterior cranial fossa, Progression, Roentgenogram, Roentgenographic, Roentgenographic examination, Roentgenographic lesions, Shortness, Silverman, Skeletal lesions, Skull, Sporadic cases, Sporadic instances, Suture, Syndrome, Systemic disorders, True osteolysis, Variable height, Vertebral bodies, Wisconsin center.
- Teeft :
- Adod, Anterior fontanelle, Bilateral inguinal herniae, Birth defects orig, Bone formation, Clinical manifestations, Connective tissue, Cranial, Cranial sutures, Distal phalanges, Dysplasia, Early loss, Epiphyseal lines, Expiratory wheezes, Fifth finger, Fingernail, Fracture, Frontal sinuses, Generalized osteoporosis, Genetic etiology, Herrmann, Intervertebral discs, Joint laxity, Laboratory data, Lamina dura, Laxity, Lesion, Long bones, Mandibular teeth, Manifestation, Massive osteolysis, Middle phalanges, Modelling, Multiple fractures, Multiple wormian bones, Osteolysis, Osteoporosis, Peculiar facies, Phalange, Plump modelling, Posterior cranial fossa, Progression, Roentgenogram, Roentgenographic, Roentgenographic examination, Roentgenographic lesions, Shortness, Silverman, Skeletal lesions, Skull, Sporadic cases, Sporadic instances, Suture, Syndrome, Systemic disorders, True osteolysis, Variable height, Vertebral bodies, Wisconsin center.
Abstract
Abstract: From one personal patient and thirteen reported in the literature, arthro-dento-osteo dysplasia (ADOD) is defined as a heritable connective tissue disorder with the main clinical manifestations of laxity of joints, early loss of teeth, and multiple osteolytic lesions, including acro-osteolysis, on roentgenographic examination. These lesions are likely to represent “pseudo-osteolysis” with faulty primary bone formation rather than true osteolysis of previously normal bone. ADOD is an example of relational pleiotropism with most clinical manifestations representing secondary effects and deformities. The cranial sutures frequently remain uncalcified and contain multiple Wormian bones. Secondary deformities may be progressive and affect primarily the skull, spine, fingers and fingernails. Pathologic fractures are clinically the most important manifestation of ADOD. In one family the mother and four of her six children were affected. The other nine case reports describe sporadic instances. ADOD is presumed to be caused by an autosomal dominant gene, the sporadic cases representing new mutations.
Url:
DOI: 10.1007/BF00440497
Links to Exploration step
ISTEX:F543045211184BFF343FF25506776FA4FA5443D6Le document en format XML
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These lesions are likely to represent “pseudo-osteolysis” with faulty primary bone formation rather than true osteolysis of previously normal bone. ADOD is an example of relational pleiotropism with most clinical manifestations representing secondary effects and deformities. The cranial sutures frequently remain uncalcified and contain multiple Wormian bones. Secondary deformities may be progressive and affect primarily the skull, spine, fingers and fingernails. Pathologic fractures are clinically the most important manifestation of ADOD. In one family the mother and four of her six children were affected. The other nine case reports describe sporadic instances. 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Zugibe</name><affiliations><json:string>Department of Pathology, Columbia University, New York, N.Y., USA</json:string></affiliations></json:item><json:item><name>Enid F. Gilbert</name><affiliations><json:string>University of Wisconsin Center for Health Sciences-Medical School, 53706, Madison, Wisconsin, USA</json:string></affiliations></json:item><json:item><name>John M. 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ADOD is an example of relational pleiotropism with most clinical manifestations representing secondary effects and deformities. The cranial sutures frequently remain uncalcified and contain multiple Wormian bones. Secondary deformities may be progressive and affect primarily the skull, spine, fingers and fingernails. Pathologic fractures are clinically the most important manifestation of ADOD. In one family the mother and four of her six children were affected. The other nine case reports describe sporadic instances. 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Herrmann et al.</json:string><json:string>[5]</json:string><json:string>[15]</json:string><json:string>Ierrmann et al.</json:string><json:string>[19]</json:string></ref_bibl><bibl></bibl></unitex></namedEntities><ark><json:string>ark:/67375/1BB-DL5L0HQK-M</json:string></ark><categories><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><json:string>4 - pathologie osteoarticulaire</json:string></inist></categories><publicationDate>1973</publicationDate><copyrightDate>1973</copyrightDate><doi><json:string>10.1007/BF00440497</json:string></doi><id>F543045211184BFF343FF25506776FA4FA5443D6</id><score>1</score><fulltext><json:item><extension>pdf</extension><original>true</original><mimetype>application/pdf</mimetype><uri>https://api.istex.fr/document/F543045211184BFF343FF25506776FA4FA5443D6/fulltext/pdf</uri></json:item><json:item><extension>zip</extension><original>false</original><mimetype>application/zip</mimetype><uri>https://api.istex.fr/document/F543045211184BFF343FF25506776FA4FA5443D6/fulltext/zip</uri></json:item><istex:fulltextTEI uri="https://api.istex.fr/document/F543045211184BFF343FF25506776FA4FA5443D6/fulltext/tei"><teiHeader><fileDesc><titleStmt><title level="a" type="main" xml:lang="en">Arthro-dento-osteo dysplasia (Hajdu-Cheney syndrome)</title><title level="a" type="sub" xml:lang="en">Review of a genetic “Acro-osteolysis” syndrome</title><respStmt><resp>Références bibliographiques récupérées via GROBID</resp><name resp="ISTEX-API">ISTEX-API (INIST-CNRS)</name></respStmt></titleStmt><publicationStmt><authority>ISTEX</authority><publisher scheme="https://publisher-list.data.istex.fr">Springer-Verlag</publisher><pubPlace>Berlin/Heidelberg</pubPlace><availability><licence><p>Springer-Verlag, 1973</p></licence><p scheme="https://loaded-corpus.data.istex.fr/ark:/67375/XBH-3XSW68JL-F">springer</p></availability><date>1972-12-06</date></publicationStmt><notesStmt><note type="review-article" scheme="https://content-type.data.istex.fr/ark:/67375/XTP-L5L7X3NF-P">review-article</note><note type="journal" scheme="https://publication-type.data.istex.fr/ark:/67375/JMC-0GLKJH51-B">journal</note></notesStmt><sourceDesc><biblStruct type="inbook"><analytic><title level="a" type="main" xml:lang="en">Arthro-dento-osteo dysplasia (Hajdu-Cheney syndrome)</title><title level="a" type="sub" xml:lang="en">Review of a genetic “Acro-osteolysis” syndrome</title><author xml:id="author-0000"><persName><forename type="first">Jürgen</forename><surname>Herrmann</surname></persName><note type="biography">Assistant Professor of Pediatrics</note><affiliation>Assistant Professor of Pediatrics</affiliation><affiliation>University of Wisconsin Center for Health Sciences-Medical School, 53706, Madison, Wisconsin, USA</affiliation></author><author xml:id="author-0001"><persName><forename type="first">Frederick</forename><surname>Zugibe</surname></persName><affiliation>Department of Pathology, Columbia University, New York, N.Y., USA</affiliation></author><author xml:id="author-0002"><persName><forename type="first">Enid</forename><surname>Gilbert</surname></persName><affiliation>University of Wisconsin Center for Health Sciences-Medical School, 53706, Madison, Wisconsin, USA</affiliation></author><author xml:id="author-0003"><persName><forename type="first">John</forename><surname>Opitz</surname></persName><affiliation>University of Wisconsin Center for Health Sciences-Medical School, 53706, Madison, Wisconsin, USA</affiliation></author><idno type="istex">F543045211184BFF343FF25506776FA4FA5443D6</idno><idno type="ark">ark:/67375/1BB-DL5L0HQK-M</idno><idno type="DOI">10.1007/BF00440497</idno><idno type="article-id">BF00440497</idno><idno type="article-id">Art1</idno></analytic><monogr><title level="j">Zeitschrift für Kinderheilkunde</title><title level="j" type="abbrev">Z. Kinder-Heilk.</title><idno type="pISSN">0178-4919</idno><idno type="eISSN">1432-1076</idno><idno type="journal-ID">true</idno><idno type="issue-article-count">7</idno><idno type="volume-issue-count">4</idno><imprint><publisher>Springer-Verlag</publisher><pubPlace>Berlin/Heidelberg</pubPlace><date type="published" when="1973-06-01"></date><biblScope unit="volume">114</biblScope><biblScope unit="issue">2</biblScope><biblScope unit="page" from="93">93</biblScope><biblScope unit="page" to="110">110</biblScope></imprint></monogr></biblStruct></sourceDesc></fileDesc><profileDesc><creation><date>1972-12-06</date></creation><langUsage><language ident="en">en</language></langUsage><abstract xml:lang="en"><p>Abstract: From one personal patient and thirteen reported in the literature, arthro-dento-osteo dysplasia (ADOD) is defined as a heritable connective tissue disorder with the main clinical manifestations of laxity of joints, early loss of teeth, and multiple osteolytic lesions, including acro-osteolysis, on roentgenographic examination. These lesions are likely to represent “pseudo-osteolysis” with faulty primary bone formation rather than true osteolysis of previously normal bone. ADOD is an example of relational pleiotropism with most clinical manifestations representing secondary effects and deformities. The cranial sutures frequently remain uncalcified and contain multiple Wormian bones. Secondary deformities may be progressive and affect primarily the skull, spine, fingers and fingernails. Pathologic fractures are clinically the most important manifestation of ADOD. In one family the mother and four of her six children were affected. The other nine case reports describe sporadic instances. ADOD is presumed to be caused by an autosomal dominant gene, the sporadic cases representing new mutations.</p></abstract><textClass><keywords scheme="Journal Subject"><list><head>Medicine & Public Health</head><item><term>Pediatrics</term></item></list></keywords></textClass></profileDesc><revisionDesc><change when="1972-12-06">Created</change><change when="1973-06-01">Published</change><change xml:id="refBibs-istex" who="#ISTEX-API" when="2017-10-3">References added</change></revisionDesc></teiHeader></istex:fulltextTEI><json:item><extension>txt</extension><original>false</original><mimetype>text/plain</mimetype><uri>https://api.istex.fr/document/F543045211184BFF343FF25506776FA4FA5443D6/fulltext/txt</uri></json:item></fulltext><metadata><istex:metadataXml wicri:clean="Springer, Publisher found" wicri:toSee="no header"><istex:xmlDeclaration>version="1.0" encoding="UTF-8"</istex:xmlDeclaration><istex:docType PUBLIC="-//Springer-Verlag//DTD A++ V2.4//EN" URI="http://devel.springer.de/A++/V2.4/DTD/A++V2.4.dtd" name="istex:docType"></istex:docType><istex:document><Publisher><PublisherInfo><PublisherName>Springer-Verlag</PublisherName><PublisherLocation>Berlin/Heidelberg</PublisherLocation></PublisherInfo><Journal><JournalInfo JournalProductType="ArchiveJournal" NumberingStyle="Unnumbered"><JournalID>431</JournalID><JournalPrintISSN>0178-4919</JournalPrintISSN><JournalElectronicISSN>1432-1076</JournalElectronicISSN><JournalTitle>Zeitschrift für Kinderheilkunde</JournalTitle><JournalAbbreviatedTitle>Z. Kinder-Heilk.</JournalAbbreviatedTitle><JournalSubjectGroup><JournalSubject Type="Primary">Medicine & Public Health</JournalSubject><JournalSubject Type="Secondary">Pediatrics</JournalSubject></JournalSubjectGroup></JournalInfo><Volume><VolumeInfo VolumeType="Regular" TocLevels="0"><VolumeIDStart>114</VolumeIDStart><VolumeIDEnd>114</VolumeIDEnd><VolumeIssueCount>4</VolumeIssueCount></VolumeInfo><Issue IssueType="Regular"><IssueInfo TocLevels="0"><IssueIDStart>2</IssueIDStart><IssueIDEnd>2</IssueIDEnd><IssueArticleCount>7</IssueArticleCount><IssueHistory><CoverDate><DateString>4. IV. 1973</DateString><Year>1973</Year><Month>6</Month></CoverDate></IssueHistory><IssueCopyright><CopyrightHolderName>Springer-Verlag</CopyrightHolderName><CopyrightYear>1973</CopyrightYear></IssueCopyright></IssueInfo><Article ID="Art1"><ArticleInfo Language="En" ArticleType="ReviewPaper" NumberingStyle="Unnumbered" TocLevels="0" ContainsESM="No"><ArticleID>BF00440497</ArticleID><ArticleDOI>10.1007/BF00440497</ArticleDOI><ArticleSequenceNumber>1</ArticleSequenceNumber><ArticleTitle Language="En">Arthro-dento-osteo dysplasia (Hajdu-Cheney syndrome)</ArticleTitle><ArticleSubTitle Language="En">Review of a genetic “Acro-osteolysis” syndrome</ArticleSubTitle><ArticleFirstPage>93</ArticleFirstPage><ArticleLastPage>110</ArticleLastPage><ArticleHistory><RegistrationDate><Year>2004</Year><Month>9</Month><Day>26</Day></RegistrationDate><Received><Year>1972</Year><Month>12</Month><Day>6</Day></Received></ArticleHistory><ArticleCopyright><CopyrightHolderName>Springer-Verlag</CopyrightHolderName><CopyrightYear>1973</CopyrightYear></ArticleCopyright><ArticleGrants Type="Regular"><MetadataGrant Grant="OpenAccess"></MetadataGrant><AbstractGrant Grant="OpenAccess"></AbstractGrant><BodyPDFGrant Grant="Restricted"></BodyPDFGrant><BodyHTMLGrant Grant="Restricted"></BodyHTMLGrant><BibliographyGrant Grant="Restricted"></BibliographyGrant><ESMGrant Grant="Restricted"></ESMGrant></ArticleGrants><ArticleContext><JournalID>431</JournalID><VolumeIDStart>114</VolumeIDStart><VolumeIDEnd>114</VolumeIDEnd><IssueIDStart>2</IssueIDStart><IssueIDEnd>2</IssueIDEnd></ArticleContext></ArticleInfo><ArticleHeader><AuthorGroup><Author AffiliationIDS="Aff1"><AuthorName DisplayOrder="Western"><GivenName>Jürgen</GivenName><FamilyName>Herrmann</FamilyName></AuthorName><Role>Assistant Professor of Pediatrics</Role></Author><Author AffiliationIDS="Aff2"><AuthorName DisplayOrder="Western"><GivenName>Frederick</GivenName><GivenName>T.</GivenName><FamilyName>Zugibe</FamilyName></AuthorName></Author><Author AffiliationIDS="Aff1"><AuthorName DisplayOrder="Western"><GivenName>Enid</GivenName><GivenName>F.</GivenName><FamilyName>Gilbert</FamilyName></AuthorName></Author><Author AffiliationIDS="Aff1"><AuthorName DisplayOrder="Western"><GivenName>John</GivenName><GivenName>M.</GivenName><FamilyName>Opitz</FamilyName></AuthorName></Author><Affiliation ID="Aff1"><OrgName>University of Wisconsin Center for Health Sciences-Medical School</OrgName><OrgAddress><Postcode>53706</Postcode><City>Madison</City><State>Wisconsin</State><Country>USA</Country></OrgAddress></Affiliation><Affiliation ID="Aff2"><OrgDivision>Department of Pathology</OrgDivision><OrgName>Columbia University</OrgName><OrgAddress><City>New York</City><State>N.Y.</State><Country>USA</Country></OrgAddress></Affiliation></AuthorGroup><Abstract ID="Abs1" Language="En"><Heading>Abstract</Heading><Para>From one personal patient and thirteen reported in the literature, arthro-dento-osteo dysplasia (ADOD) is defined as a heritable connective tissue disorder with the main clinical manifestations of laxity of joints, early loss of teeth, and multiple osteolytic lesions, including acro-osteolysis, on roentgenographic examination. These lesions are likely to represent “pseudo-osteolysis” with faulty primary bone formation rather than true osteolysis of previously normal bone.</Para><Para>ADOD is an example of relational pleiotropism with most clinical manifestations representing secondary effects and deformities. The cranial sutures frequently remain uncalcified and contain multiple Wormian bones. Secondary deformities may be progressive and affect primarily the skull, spine, fingers and fingernails. Pathologic fractures are clinically the most important manifestation of ADOD.</Para><Para>In one family the mother and four of her six children were affected. The other nine case reports describe sporadic instances. ADOD is presumed to be caused by an autosomal dominant gene, the sporadic cases representing new mutations.</Para></Abstract><KeywordGroup Language="En"><Heading>Key words</Heading><Keyword>Connective tissue dysplasia</Keyword><Keyword>Generalized skeletal dysplasia</Keyword><Keyword>Osteolysis</Keyword><Keyword>Acro-osteolysis</Keyword><Keyword>Joint laxity</Keyword><Keyword>Loss of teeth</Keyword><Keyword>Autosomal dominant inheritance</Keyword><Keyword>Relational pleiotropism</Keyword></KeywordGroup><ArticleNote Type="Misc"><SimplePara>Studies supported by PHS/NIH Grants GM 15422 and 1 K04 HD-18982. This paper is contributed in part as paper number 1566 of the University of Wiscosin Genetics Laboratory</SimplePara></ArticleNote></ArticleHeader><NoBody></NoBody></Article></Issue></Volume></Journal></Publisher></istex:document></istex:metadataXml><mods version="3.6"><titleInfo lang="en"><title>Arthro-dento-osteo dysplasia (Hajdu-Cheney syndrome)</title><subTitle>Review of a genetic “Acro-osteolysis” syndrome</subTitle></titleInfo><titleInfo type="alternative" contentType="CDATA" lang="en"><title>Arthro-dento-osteo dysplasia (Hajdu-Cheney syndrome)</title><subTitle>Review of a genetic “Acro-osteolysis” syndrome</subTitle></titleInfo><name type="personal"><namePart type="given">Jürgen</namePart><namePart type="family">Herrmann</namePart><affiliation>University of Wisconsin Center for Health Sciences-Medical School, 53706, Madison, Wisconsin, USA</affiliation><role><roleTerm type="text">author</roleTerm></role><description>Assistant Professor of Pediatrics</description></name><name type="personal"><namePart type="given">Frederick</namePart><namePart type="given">T.</namePart><namePart type="family">Zugibe</namePart><affiliation>Department of Pathology, Columbia University, New York, N.Y., USA</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Enid</namePart><namePart type="given">F.</namePart><namePart type="family">Gilbert</namePart><affiliation>University of Wisconsin Center for Health Sciences-Medical School, 53706, Madison, Wisconsin, USA</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">John</namePart><namePart type="given">M.</namePart><namePart type="family">Opitz</namePart><affiliation>University of Wisconsin Center for Health Sciences-Medical School, 53706, Madison, Wisconsin, USA</affiliation><role><roleTerm type="text">author</roleTerm></role></name><typeOfResource>text</typeOfResource><genre type="review-article" displayLabel="ReviewPaper" authority="ISTEX" authorityURI="https://content-type.data.istex.fr" valueURI="https://content-type.data.istex.fr/ark:/67375/XTP-L5L7X3NF-P">review-article</genre><originInfo><publisher>Springer-Verlag</publisher><place><placeTerm type="text">Berlin/Heidelberg</placeTerm></place><dateCreated encoding="w3cdtf">1972-12-06</dateCreated><dateIssued encoding="w3cdtf">1973-06-01</dateIssued><dateIssued encoding="w3cdtf">1973</dateIssued><copyrightDate encoding="w3cdtf">1973</copyrightDate></originInfo><language><languageTerm type="code" authority="rfc3066">en</languageTerm><languageTerm type="code" authority="iso639-2b">eng</languageTerm></language><abstract lang="en">Abstract: From one personal patient and thirteen reported in the literature, arthro-dento-osteo dysplasia (ADOD) is defined as a heritable connective tissue disorder with the main clinical manifestations of laxity of joints, early loss of teeth, and multiple osteolytic lesions, including acro-osteolysis, on roentgenographic examination. These lesions are likely to represent “pseudo-osteolysis” with faulty primary bone formation rather than true osteolysis of previously normal bone. ADOD is an example of relational pleiotropism with most clinical manifestations representing secondary effects and deformities. The cranial sutures frequently remain uncalcified and contain multiple Wormian bones. Secondary deformities may be progressive and affect primarily the skull, spine, fingers and fingernails. Pathologic fractures are clinically the most important manifestation of ADOD. In one family the mother and four of her six children were affected. The other nine case reports describe sporadic instances. ADOD is presumed to be caused by an autosomal dominant gene, the sporadic cases representing new mutations.</abstract><relatedItem type="host"><titleInfo><title>Zeitschrift für Kinderheilkunde</title></titleInfo><titleInfo type="abbreviated"><title>Z. 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