Oculodentodigital dysplasia
Identifieur interne : 000668 ( Istex/Corpus ); précédent : 000667; suivant : 000669Oculodentodigital dysplasia
Auteurs : Robert J. Gorlin ; Lawrence H. Meskin ; Joseph W. St. GemeSource :
- The Journal of Pediatrics [ 0022-3476 ] ; 1963.
English descriptors
- KwdEn :
- Alveolar ridge, Anomaly, Bilaterally, Bone conduction, Canthal distance, Defective development, Digit, Enamel, Family history, Fifth digits bilaterally, Fifth finger, Fifth fingers, Generalized hypoplasia, Hypoplasia, Interpupillary distance, Iris, Iris anomalies, Iris frill, Middle phalanges, Middle phalanx, Ocular, Ocular anomalies, Ocular hypotelorism, Oculodentodigital dysplasia, Oral pathology, Pupillary, Pupillary margin, Pupillary membrane, Radiographic examination, Rieger syndrome, Second digit bilaterally, Second phalanx, Severe hypoplasia, Slight undertubulation, Syndactyly, Syndrome, Thin nose.
- Teeft :
- Alveolar ridge, Anomaly, Bilaterally, Bone conduction, Canthal distance, Defective development, Digit, Enamel, Family history, Fifth digits bilaterally, Fifth finger, Fifth fingers, Generalized hypoplasia, Hypoplasia, Interpupillary distance, Iris, Iris anomalies, Iris frill, Middle phalanges, Middle phalanx, Ocular, Ocular anomalies, Ocular hypotelorism, Oculodentodigital dysplasia, Oral pathology, Pupillary, Pupillary margin, Pupillary membrane, Radiographic examination, Rieger syndrome, Second digit bilaterally, Second phalanx, Severe hypoplasia, Slight undertubulation, Syndactyly, Syndrome, Thin nose.
Abstract
A new syndrome, oculodentodigital dysplasia, is presented. Six case histories, 5 found in the literature and 1 of our own, have been analyzed and found to demonstrate similar changes. This new symptom complex is characterized by ocular anomalies which include hypotelorism, microphthalmia, and iridic changes; digital disfigurations including syndactyly and camptodactyly of the fourth and fifth fingers, and hypoplasia or aplasia of the middle phalanges and toes; and severe hypoplasia of the enamel of all the teeth. No chromosomal anomaly was demonstrable and no gentic pattern of transmission was apparent.
Url:
DOI: 10.1016/S0022-3476(63)80304-2
Links to Exploration step
ISTEX:0DD7A16592DEABDCC5B1E49BDB16DB8B26E66F62Le document en format XML
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Six case histories, 5 found in the literature and 1 of our own, have been analyzed and found to demonstrate similar changes. This new symptom complex is characterized by ocular anomalies which include hypotelorism, microphthalmia, and iridic changes; digital disfigurations including syndactyly and camptodactyly of the fourth and fifth fingers, and hypoplasia or aplasia of the middle phalanges and toes; and severe hypoplasia of the enamel of all the teeth. No chromosomal anomaly was demonstrable and no gentic pattern of transmission was apparent.</div></front></TEI><istex><corpusName>elsevier</corpusName><keywords><teeft><json:string>hypoplasia</json:string><json:string>iris</json:string><json:string>bilaterally</json:string><json:string>syndactyly</json:string><json:string>pupillary</json:string><json:string>fifth fingers</json:string><json:string>anomaly</json:string><json:string>ocular hypotelorism</json:string><json:string>oculodentodigital dysplasia</json:string><json:string>middle phalanx</json:string><json:string>enamel</json:string><json:string>digit</json:string><json:string>fifth finger</json:string><json:string>second digit bilaterally</json:string><json:string>bone conduction</json:string><json:string>canthal distance</json:string><json:string>thin nose</json:string><json:string>pupillary membrane</json:string><json:string>syndrome</json:string><json:string>second phalanx</json:string><json:string>middle phalanges</json:string><json:string>ocular anomalies</json:string><json:string>fifth digits bilaterally</json:string><json:string>slight undertubulation</json:string><json:string>severe hypoplasia</json:string><json:string>oral pathology</json:string><json:string>interpupillary distance</json:string><json:string>family history</json:string><json:string>pupillary margin</json:string><json:string>iris frill</json:string><json:string>defective development</json:string><json:string>rieger syndrome</json:string><json:string>alveolar ridge</json:string><json:string>generalized hypoplasia</json:string><json:string>iris anomalies</json:string><json:string>radiographic examination</json:string><json:string>ocular</json:string></teeft></keywords><author><json:item><name>Robert J. 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Six case histories, 5 found in the literature and 1 of our own, have been analyzed and found to demonstrate similar changes. This new symptom complex is characterized by ocular anomalies which include hypotelorism, microphthalmia, and iridic changes; digital disfigurations including syndactyly and camptodactyly of the fourth and fifth fingers, and hypoplasia or aplasia of the middle phalanges and toes; and severe hypoplasia of the enamel of all the teeth. 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Mosby Company</p></availability><date>1963</date></publicationStmt><sourceDesc><biblStruct type="inbook"><analytic><title level="a" type="main" xml:lang="en">Oculodentodigital dysplasia</title><author xml:id="author-0000"><persName><forename type="first">Robert J.</forename><surname>Gorlin</surname></persName><roleName type="degree">D.D.S., M.S.</roleName><note type="biography">Professor and Chairman</note><note type="biography">Address, Division of Oral Pathology, University of Minnesota School of Dentistry, Minneapolis 14, Minn.</note><affiliation>Professor and Chairman</affiliation><affiliation>Address, Division of Oral Pathology, University of Minnesota School of Dentistry, Minneapolis 14, Minn.</affiliation><affiliation>Division of Oral Pathology and Department of Pediatrics, University of Minnesota, Minneapolis, Minn., USA</affiliation></author><author xml:id="author-0001"><persName><forename type="first">Lawrence H.</forename><surname>Meskin</surname></persName><roleName type="degree">D.D.S.</roleName><affiliation>Division of Oral Pathology and Department of Pediatrics, University of Minnesota, Minneapolis, Minn., USA</affiliation></author><author xml:id="author-0002"><persName><forename type="first">Joseph W. St.</forename><surname>Geme</surname></persName><roleName type="degree">M.D.</roleName><affiliation>Division of Oral Pathology and Department of Pediatrics, University of Minnesota, Minneapolis, Minn., USA</affiliation></author><idno type="istex">0DD7A16592DEABDCC5B1E49BDB16DB8B26E66F62</idno><idno type="DOI">10.1016/S0022-3476(63)80304-2</idno><idno type="PII">S0022-3476(63)80304-2</idno><idno type="ArticleID">63803042</idno></analytic><monogr><title level="j">The Journal of Pediatrics</title><title level="j" type="abbrev">YMPD</title><idno type="pISSN">0022-3476</idno><idno type="PII">S0022-3476(63)X8295-9</idno><imprint><publisher>ELSEVIER</publisher><date type="published" when="1963"></date><biblScope unit="volume">63</biblScope><biblScope unit="issue">1</biblScope><biblScope unit="page" from="69">69</biblScope><biblScope unit="page" to="75">75</biblScope></imprint></monogr></biblStruct></sourceDesc></fileDesc><profileDesc><creation><date>1963</date></creation><langUsage><language ident="en">en</language></langUsage><abstract xml:lang="en"><p>A new syndrome, oculodentodigital dysplasia, is presented. Six case histories, 5 found in the literature and 1 of our own, have been analyzed and found to demonstrate similar changes. This new symptom complex is characterized by ocular anomalies which include hypotelorism, microphthalmia, and iridic changes; digital disfigurations including syndactyly and camptodactyly of the fourth and fifth fingers, and hypoplasia or aplasia of the middle phalanges and toes; and severe hypoplasia of the enamel of all the teeth. No chromosomal anomaly was demonstrable and no gentic pattern of transmission was apparent.</p></abstract></profileDesc><revisionDesc><change when="1963">Published</change></revisionDesc></teiHeader></istex:fulltextTEI><json:item><extension>txt</extension><original>false</original><mimetype>text/plain</mimetype><uri>https://api.istex.fr/document/0DD7A16592DEABDCC5B1E49BDB16DB8B26E66F62/fulltext/txt</uri></json:item></fulltext><metadata><istex:metadataXml wicri:clean="Elsevier doc found" wicri:toSee="Elsevier, no converted or simple article"><istex:xmlDeclaration>version="1.0" encoding="utf-8"</istex:xmlDeclaration><istex:docType PUBLIC="-//ES//DTD journal article DTD version 5.0.1//EN//XML" URI="art501.dtd" name="istex:docType"></istex:docType><istex:document><article version="5.0" xml:lang="en" docsubtype="fla"><item-info><jid>YMPD</jid><aid>63803042</aid><ce:pii>S0022-3476(63)80304-2</ce:pii><ce:doi>10.1016/S0022-3476(63)80304-2</ce:doi><ce:copyright type="unknown" year="1963">The C. V. Mosby Company</ce:copyright></item-info><head><ce:title>Oculodentodigital dysplasia</ce:title><ce:author-group><ce:author><ce:degrees>D.D.S., M.S.</ce:degrees><ce:given-name>Robert J.</ce:given-name><ce:surname>Gorlin</ce:surname><ce:roles>Professor and Chairman</ce:roles><ce:cross-ref refid="fn1"><ce:sup>*</ce:sup></ce:cross-ref></ce:author><ce:author><ce:degrees>D.D.S.</ce:degrees><ce:given-name>Lawrence H.</ce:given-name><ce:surname>Meskin</ce:surname></ce:author><ce:author><ce:degrees>M.D.</ce:degrees><ce:given-name>Joseph W. St.</ce:given-name><ce:surname>Geme</ce:surname></ce:author><ce:affiliation id="aff1"><ce:textfn>Division of Oral Pathology and Department of Pediatrics, University of Minnesota, Minneapolis, Minn., USA</ce:textfn></ce:affiliation><ce:footnote id="fn1"><ce:label>*</ce:label><ce:note-para>Address, Division of Oral Pathology, University of Minnesota School of Dentistry, Minneapolis 14, Minn.</ce:note-para></ce:footnote></ce:author-group><ce:abstract id="ab1" class="author" xml:lang="en"><ce:abstract-sec><ce:simple-para>A new syndrome, oculodentodigital dysplasia, is presented. Six case histories, 5 found in the literature and 1 of our own, have been analyzed and found to demonstrate similar changes. This new symptom complex is characterized by ocular anomalies which include hypotelorism, microphthalmia, and iridic changes; digital disfigurations including syndactyly and camptodactyly of the fourth and fifth fingers, and hypoplasia or aplasia of the middle phalanges and toes; and severe hypoplasia of the enamel of all the teeth. No chromosomal anomaly was demonstrable and no gentic pattern of transmission was apparent.</ce:simple-para></ce:abstract-sec></ce:abstract></head><tail><ce:bibliography><ce:section-title>References</ce:section-title><ce:bibliography-sec><ce:bib-reference id="bib1"><ce:label>1.</ce:label><sb:reference><sb:contribution langtype="iso" xml:lang="de"><sb:authors><sb:author><ce:surname>Lohmann</ce:surname><ce:given-name>W.</ce:given-name></sb:author></sb:authors><sb:title><sb:maintitle>Beitrag zur Kenntnis des reinen Mikrophthalmus</sb:maintitle></sb:title></sb:contribution><sb:host><sb:issue><sb:series><sb:title><sb:maintitle>Arch. f. 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A clinical syndrome</sb:maintitle></sb:title></sb:contribution><sb:host><sb:issue><sb:series><sb:title><sb:maintitle>Lancet</sb:maintitle></sb:title><sb:volume-nr>2</sb:volume-nr></sb:series><sb:date>1961</sb:date></sb:issue><sb:pages><sb:first-page>1001</sb:first-page></sb:pages></sb:host></sb:reference></ce:bib-reference><ce:bib-reference id="bib15"><ce:label>15.</ce:label><sb:reference><sb:contribution langtype="iso" xml:lang="de"><sb:authors><sb:author><ce:surname>Pitter</ce:surname><ce:given-name>J.</ce:given-name></sb:author><sb:author><ce:surname>Svejda</ce:surname><ce:given-name>J.</ce:given-name></sb:author></sb:authors><sb:title><sb:maintitle>Über den Einfluess der Röntgenstrahlen auf die Entstchung von Missbildungen der menschlichen Frucht</sb:maintitle></sb:title></sb:contribution><sb:host><sb:issue><sb:series><sb:title><sb:maintitle>Ophthalmalogica</sb:maintitle></sb:title><sb:volume-nr>123</sb:volume-nr></sb:series><sb:date>1952</sb:date></sb:issue><sb:pages><sb:first-page>386</sb:first-page></sb:pages></sb:host></sb:reference></ce:bib-reference></ce:bibliography-sec></ce:bibliography></tail></article></istex:document></istex:metadataXml><mods version="3.6"><titleInfo lang="en"><title>Oculodentodigital dysplasia</title></titleInfo><titleInfo type="alternative" lang="en" contentType="CDATA"><title>Oculodentodigital dysplasia</title></titleInfo><name type="personal"><namePart type="given">Robert J.</namePart><namePart type="family">Gorlin</namePart><namePart type="termsOfAddress">D.D.S., M.S.</namePart><affiliation>Division of Oral Pathology and Department of Pediatrics, University of Minnesota, Minneapolis, Minn., USA</affiliation><description>Professor and Chairman</description><description>Address, Division of Oral Pathology, University of Minnesota School of Dentistry, Minneapolis 14, Minn.</description><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Lawrence H.</namePart><namePart type="family">Meskin</namePart><namePart type="termsOfAddress">D.D.S.</namePart><affiliation>Division of Oral Pathology and Department of Pediatrics, University of Minnesota, Minneapolis, Minn., USA</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Joseph W. St.</namePart><namePart type="family">Geme</namePart><namePart type="termsOfAddress">M.D.</namePart><affiliation>Division of Oral Pathology and Department of Pediatrics, University of Minnesota, Minneapolis, Minn., USA</affiliation><role><roleTerm type="text">author</roleTerm></role></name><typeOfResource>text</typeOfResource><genre type="research-article" displayLabel="Full-length article" authority="ISTEX" authorityURI="https://content-type.data.istex.fr" valueURI="https://content-type.data.istex.fr/ark:/67375/XTP-1JC4F85T-7">research-article</genre><originInfo><publisher>ELSEVIER</publisher><dateIssued encoding="w3cdtf">1963</dateIssued><copyrightDate encoding="w3cdtf">1963</copyrightDate></originInfo><language><languageTerm type="code" authority="iso639-2b">eng</languageTerm><languageTerm type="code" authority="rfc3066">en</languageTerm></language><abstract lang="en">A new syndrome, oculodentodigital dysplasia, is presented. Six case histories, 5 found in the literature and 1 of our own, have been analyzed and found to demonstrate similar changes. This new symptom complex is characterized by ocular anomalies which include hypotelorism, microphthalmia, and iridic changes; digital disfigurations including syndactyly and camptodactyly of the fourth and fifth fingers, and hypoplasia or aplasia of the middle phalanges and toes; and severe hypoplasia of the enamel of all the teeth. No chromosomal anomaly was demonstrable and no gentic pattern of transmission was apparent.</abstract><relatedItem type="host"><titleInfo><title>The Journal of Pediatrics</title></titleInfo><titleInfo type="abbreviated"><title>YMPD</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><originInfo><publisher>ELSEVIER</publisher><dateIssued encoding="w3cdtf">196307</dateIssued></originInfo><identifier type="ISSN">0022-3476</identifier><identifier type="PII">S0022-3476(63)X8295-9</identifier><part><date>196307</date><detail type="volume"><number>63</number><caption>vol.</caption></detail><detail type="issue"><number>1</number><caption>no.</caption></detail><extent unit="issue-pages"><start>1A</start><end>78A</end></extent><extent unit="issue-pages"><start>1</start><end>194</end></extent><extent unit="issue-pages"><start>79A</start><end>92A</end></extent><extent unit="pages"><start>69</start><end>75</end></extent></part></relatedItem><identifier type="istex">0DD7A16592DEABDCC5B1E49BDB16DB8B26E66F62</identifier><identifier type="ark">ark:/67375/6H6-WLFFMWJX-V</identifier><identifier type="DOI">10.1016/S0022-3476(63)80304-2</identifier><identifier type="PII">S0022-3476(63)80304-2</identifier><identifier type="ArticleID">63803042</identifier><accessCondition type="use and reproduction" contentType="copyright">©1963 The C. V. Mosby Company</accessCondition><recordInfo><recordContentSource authority="ISTEX" authorityURI="https://loaded-corpus.data.istex.fr" valueURI="https://loaded-corpus.data.istex.fr/ark:/67375/XBH-HKKZVM7B-M">elsevier</recordContentSource><recordOrigin>The C. V. Mosby Company, ©1963</recordOrigin></recordInfo></mods><json:item><extension>json</extension><original>false</original><mimetype>application/json</mimetype><uri>https://api.istex.fr/document/0DD7A16592DEABDCC5B1E49BDB16DB8B26E66F62/metadata/json</uri></json:item></metadata><serie></serie></istex></record>Pour manipuler ce document sous Unix (Dilib)
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