Rett syndrome—a review and discussion of syndrome delineation and syndrome definition
Identifieur interne : 000544 ( Istex/Corpus ); précédent : 000543; suivant : 000545Rett syndrome—a review and discussion of syndrome delineation and syndrome definition
Auteurs : John M. Opitz ; Susan O. LewinSource :
- Brain and Development [ 0387-7604 ] ; 1987.
English descriptors
- KwdEn :
Abstract
The current status of clinical genetic and pathogenetic knowledge in Rett syndrome is reviewed and updated. Some of the concepts which are highlighted include among others, causal homogeneity vs heterogeneity; the difficulty of dealing with potential variability while the possibility of heterogeneity still exists; progress in examining genetic hypotheses. We review our experience with 8 new patients, note the evidence for the presence of congenital hypotonia in all and several instances of minor anomalies and again raise the issue of whether girls with the Rett syndrome are in fact normal from the time of birth and in early infancy until the characteristic phenotype is recognizable. Previous recommendations for standardized international history, examination and investigation protocols are strongly reinforced, and the question as to who should study brains of Rett syndrome patients is raised by a parent. As is the case in most conditions now being studied by molecular geneticists, finding a marker will be a major etiologic breakthrough, but the work of delineating the pathogenesis will remain to be done.
Url:
DOI: 10.1016/S0387-7604(87)80061-X
Links to Exploration step
ISTEX:0BCF52E60A0FFC8E6973516D7D3B2FCFD178E77CLe document en format XML
<record><TEI wicri:istexFullTextTei="biblStruct"><teiHeader><fileDesc><titleStmt><title xml:lang="en">Rett syndrome—a review and discussion of syndrome delineation and syndrome definition</title><author><name sortKey="Opitz, John M" sort="Opitz, John M" uniqKey="Opitz J" first="John M" last="Opitz">John M. Opitz</name><affiliation><mods:affiliation>Shodair Children's Hospital, Helena Montana (JMO, SOL)</mods:affiliation></affiliation><affiliation><mods:affiliation>Universities of Washington/Seattle and Wisconsin/Madison and Montana State University, Bozeman, Montana</mods:affiliation></affiliation><affiliation><mods:affiliation>Correspondence address: John M. Opitz, Shodair Children's Specialty Hospital, Box 5539, Helena, MT 59604, USA.</mods:affiliation></affiliation></author><author><name sortKey="Lewin, Susan O" sort="Lewin, Susan O" uniqKey="Lewin S" first="Susan O" last="Lewin">Susan O. Lewin</name><affiliation><mods:affiliation>Shodair Children's Hospital, Helena Montana (JMO, SOL)</mods:affiliation></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">ISTEX</idno><idno type="RBID">ISTEX:0BCF52E60A0FFC8E6973516D7D3B2FCFD178E77C</idno><date when="1987" year="1987">1987</date><idno type="doi">10.1016/S0387-7604(87)80061-X</idno><idno type="url">https://api.istex.fr/document/0BCF52E60A0FFC8E6973516D7D3B2FCFD178E77C/fulltext/pdf</idno><idno type="wicri:Area/Istex/Corpus">000544</idno><idno type="wicri:explorRef" wicri:stream="Istex" wicri:step="Corpus" wicri:corpus="ISTEX">000544</idno></publicationStmt><sourceDesc><biblStruct><analytic><title level="a" type="main" xml:lang="en">Rett syndrome—a review and discussion of syndrome delineation and syndrome definition</title><author><name sortKey="Opitz, John M" sort="Opitz, John M" uniqKey="Opitz J" first="John M" last="Opitz">John M. Opitz</name><affiliation><mods:affiliation>Shodair Children's Hospital, Helena Montana (JMO, SOL)</mods:affiliation></affiliation><affiliation><mods:affiliation>Universities of Washington/Seattle and Wisconsin/Madison and Montana State University, Bozeman, Montana</mods:affiliation></affiliation><affiliation><mods:affiliation>Correspondence address: John M. Opitz, Shodair Children's Specialty Hospital, Box 5539, Helena, MT 59604, USA.</mods:affiliation></affiliation></author><author><name sortKey="Lewin, Susan O" sort="Lewin, Susan O" uniqKey="Lewin S" first="Susan O" last="Lewin">Susan O. Lewin</name><affiliation><mods:affiliation>Shodair Children's Hospital, Helena Montana (JMO, SOL)</mods:affiliation></affiliation></author></analytic><monogr></monogr><series><title level="j">Brain and Development</title><title level="j" type="abbrev">BRADEV</title><idno type="ISSN">0387-7604</idno><imprint><publisher>ELSEVIER</publisher><date type="published" when="1987">1987</date><biblScope unit="volume">9</biblScope><biblScope unit="issue">5</biblScope><biblScope unit="page" from="445">445</biblScope><biblScope unit="page" to="450">450</biblScope></imprint><idno type="ISSN">0387-7604</idno></series></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0387-7604</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Rett syndrome</term><term>genetic hypotheses</term><term>review</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract">The current status of clinical genetic and pathogenetic knowledge in Rett syndrome is reviewed and updated. Some of the concepts which are highlighted include among others, causal homogeneity vs heterogeneity; the difficulty of dealing with potential variability while the possibility of heterogeneity still exists; progress in examining genetic hypotheses. We review our experience with 8 new patients, note the evidence for the presence of congenital hypotonia in all and several instances of minor anomalies and again raise the issue of whether girls with the Rett syndrome are in fact normal from the time of birth and in early infancy until the characteristic phenotype is recognizable. Previous recommendations for standardized international history, examination and investigation protocols are strongly reinforced, and the question as to who should study brains of Rett syndrome patients is raised by a parent. As is the case in most conditions now being studied by molecular geneticists, finding a marker will be a major etiologic breakthrough, but the work of delineating the pathogenesis will remain to be done.</div></front></TEI><istex><corpusName>elsevier</corpusName><keywords><teeft><json:string>rett</json:string><json:string>rett syndrome</json:string><json:string>syndrome</json:string><json:string>heterogeneity</json:string><json:string>killian</json:string><json:string>genetics</json:string><json:string>mutation</json:string><json:string>ornithine</json:string><json:string>autosomal</json:string><json:string>phenotype</json:string><json:string>ornithine transcarbamylase deficiency</json:string><json:string>rett syndrome patients</json:string><json:string>congenital hypotonia</json:string><json:string>genetic hypotheses</json:string><json:string>congenital</json:string><json:string>normal development</json:string><json:string>syndrome delineation</json:string><json:string>brain development</json:string><json:string>andreas rett</json:string><json:string>rett syndrome phenotype</json:string><json:string>autosomal recessive</json:string><json:string>genetic heterogeneity</json:string><json:string>abnormal hand movements</json:string><json:string>biotin dependency</json:string><json:string>rett syndrome manifestations</json:string><json:string>genetic condition</json:string><json:string>common disorder</json:string><json:string>medical dictionary</json:string><json:string>physical examination</json:string><json:string>rett syndrome propositae</json:string><json:string>rett syndrome girls</json:string><json:string>standardized protocol</json:string><json:string>first cousins</json:string><json:string>second cousins</json:string><json:string>minor anomalies</json:string><json:string>monozygotic twins</json:string><json:string>dizygotic twins</json:string><json:string>rett conference</json:string><json:string>clinical genetics</json:string><json:string>personal communication</json:string><json:string>genetic</json:string></teeft></keywords><author><json:item><name>John M Opitz MD</name><affiliations><json:string>Shodair Children's Hospital, Helena Montana (JMO, SOL)</json:string><json:string>Universities of Washington/Seattle and Wisconsin/Madison and Montana State University, Bozeman, Montana</json:string><json:string>Correspondence address: John M. Opitz, Shodair Children's Specialty Hospital, Box 5539, Helena, MT 59604, USA.</json:string></affiliations></json:item><json:item><name>Susan O Lewin MD</name><affiliations><json:string>Shodair Children's Hospital, Helena Montana (JMO, SOL)</json:string></affiliations></json:item></author><subject><json:item><lang><json:string>eng</json:string></lang><value>Rett syndrome</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>review</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>genetic hypotheses</value></json:item></subject><articleId><json:string>80061</json:string></articleId><language><json:string>eng</json:string></language><originalGenre><json:string>Full-length article</json:string></originalGenre><abstract>The current status of clinical genetic and pathogenetic knowledge in Rett syndrome is reviewed and updated. Some of the concepts which are highlighted include among others, causal homogeneity vs heterogeneity; the difficulty of dealing with potential variability while the possibility of heterogeneity still exists; progress in examining genetic hypotheses. We review our experience with 8 new patients, note the evidence for the presence of congenital hypotonia in all and several instances of minor anomalies and again raise the issue of whether girls with the Rett syndrome are in fact normal from the time of birth and in early infancy until the characteristic phenotype is recognizable. Previous recommendations for standardized international history, examination and investigation protocols are strongly reinforced, and the question as to who should study brains of Rett syndrome patients is raised by a parent. As is the case in most conditions now being studied by molecular geneticists, finding a marker will be a major etiologic breakthrough, but the work of delineating the pathogenesis will remain to be done.</abstract><qualityIndicators><score>7.955</score><pdfVersion>1.7</pdfVersion><pdfPageSize>576 x 792 pts</pdfPageSize><refBibsNative>true</refBibsNative><keywordCount>3</keywordCount><abstractCharCount>1121</abstractCharCount><pdfWordCount>3915</pdfWordCount><pdfCharCount>24048</pdfCharCount><pdfPageCount>6</pdfPageCount><abstractWordCount>170</abstractWordCount></qualityIndicators><title>Rett syndrome—a review and discussion of syndrome delineation and syndrome definition</title><pii><json:string>S0387-7604(87)80061-X</json:string></pii><genre><json:string>research-article</json:string></genre><host><title>Brain and Development</title><language><json:string>unknown</json:string></language><publicationDate>1987</publicationDate><issn><json:string>0387-7604</json:string></issn><pii><json:string>S0387-7604(87)X8061-4</json:string></pii><volume>9</volume><issue>5</issue><pages><first>445</first><last>450</last></pages><genre><json:string>journal</json:string></genre></host><categories><wos><json:string>science</json:string><json:string>clinical neurology</json:string></wos><scienceMetrix><json:string>health sciences</json:string><json:string>clinical medicine</json:string><json:string>neurology & neurosurgery</json:string></scienceMetrix></categories><publicationDate>1987</publicationDate><copyrightDate>1987</copyrightDate><doi><json:string>10.1016/S0387-7604(87)80061-X</json:string></doi><id>0BCF52E60A0FFC8E6973516D7D3B2FCFD178E77C</id><score>1</score><fulltext><json:item><extension>pdf</extension><original>true</original><mimetype>application/pdf</mimetype><uri>https://api.istex.fr/document/0BCF52E60A0FFC8E6973516D7D3B2FCFD178E77C/fulltext/pdf</uri></json:item><json:item><extension>zip</extension><original>false</original><mimetype>application/zip</mimetype><uri>https://api.istex.fr/document/0BCF52E60A0FFC8E6973516D7D3B2FCFD178E77C/fulltext/zip</uri></json:item><istex:fulltextTEI uri="https://api.istex.fr/document/0BCF52E60A0FFC8E6973516D7D3B2FCFD178E77C/fulltext/tei"><teiHeader><fileDesc><titleStmt><title level="a" type="main" xml:lang="en">Rett syndrome—a review and discussion of syndrome delineation and syndrome definition</title></titleStmt><publicationStmt><authority>ISTEX</authority><publisher>ELSEVIER</publisher><availability><p>ELSEVIER</p></availability><date>1987</date></publicationStmt><sourceDesc><biblStruct type="inbook"><analytic><title level="a" type="main" xml:lang="en">Rett syndrome—a review and discussion of syndrome delineation and syndrome definition</title><author xml:id="author-0000"><persName><forename type="first">John M</forename><surname>Opitz</surname></persName><roleName type="degree">MD</roleName><affiliation>Shodair Children's Hospital, Helena Montana (JMO, SOL)</affiliation><affiliation>Universities of Washington/Seattle and Wisconsin/Madison and Montana State University, Bozeman, Montana</affiliation><affiliation>Correspondence address: John M. Opitz, Shodair Children's Specialty Hospital, Box 5539, Helena, MT 59604, USA.</affiliation></author><author xml:id="author-0001"><persName><forename type="first">Susan O</forename><surname>Lewin</surname></persName><roleName type="degree">MD</roleName><affiliation>Shodair Children's Hospital, Helena Montana (JMO, SOL)</affiliation></author><idno type="istex">0BCF52E60A0FFC8E6973516D7D3B2FCFD178E77C</idno><idno type="DOI">10.1016/S0387-7604(87)80061-X</idno><idno type="PII">S0387-7604(87)80061-X</idno><idno type="ArticleID">80061</idno></analytic><monogr><title level="j">Brain and Development</title><title level="j" type="abbrev">BRADEV</title><idno type="pISSN">0387-7604</idno><idno type="PII">S0387-7604(87)X8061-4</idno><imprint><publisher>ELSEVIER</publisher><date type="published" when="1987"></date><biblScope unit="volume">9</biblScope><biblScope unit="issue">5</biblScope><biblScope unit="page" from="445">445</biblScope><biblScope unit="page" to="450">450</biblScope></imprint></monogr></biblStruct></sourceDesc></fileDesc><profileDesc><creation><date>1987</date></creation><langUsage><language ident="en">en</language></langUsage><abstract><p>The current status of clinical genetic and pathogenetic knowledge in Rett syndrome is reviewed and updated. Some of the concepts which are highlighted include among others, causal homogeneity vs heterogeneity; the difficulty of dealing with potential variability while the possibility of heterogeneity still exists; progress in examining genetic hypotheses. We review our experience with 8 new patients, note the evidence for the presence of congenital hypotonia in all and several instances of minor anomalies and again raise the issue of whether girls with the Rett syndrome are in fact normal from the time of birth and in early infancy until the characteristic phenotype is recognizable. Previous recommendations for standardized international history, examination and investigation protocols are strongly reinforced, and the question as to who should study brains of Rett syndrome patients is raised by a parent. As is the case in most conditions now being studied by molecular geneticists, finding a marker will be a major etiologic breakthrough, but the work of delineating the pathogenesis will remain to be done.</p></abstract><textClass xml:lang="en"><keywords scheme="keyword"><list><head>Key words</head><item><term>Rett syndrome</term></item><item><term>review</term></item><item><term>genetic hypotheses</term></item></list></keywords></textClass></profileDesc><revisionDesc><change when="1987">Published</change></revisionDesc></teiHeader></istex:fulltextTEI><json:item><extension>txt</extension><original>false</original><mimetype>text/plain</mimetype><uri>https://api.istex.fr/document/0BCF52E60A0FFC8E6973516D7D3B2FCFD178E77C/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 5.1.0//EN//XML" URI="art510.dtd" name="istex:docType"></istex:docType><istex:document><article version="5.1" xml:lang="en" docsubtype="fla"><item-info><jid>BRADEV</jid><aid>80061</aid><ce:pii>S0387-7604(87)80061-X</ce:pii><ce:doi>10.1016/S0387-7604(87)80061-X</ce:doi><ce:copyright type="unknown" year="1987"></ce:copyright></item-info><head><ce:title>Rett syndrome—a review and discussion of syndrome delineation and syndrome definition</ce:title><ce:author-group><ce:author><ce:given-name>John M</ce:given-name><ce:surname>Opitz</ce:surname><ce:degrees>MD</ce:degrees><ce:cross-ref refid="aff1"><ce:sup>a</ce:sup></ce:cross-ref><ce:cross-ref refid="aff2"><ce:sup>b</ce:sup></ce:cross-ref><ce:cross-ref refid="cor1"><ce:sup>*</ce:sup></ce:cross-ref></ce:author><ce:author><ce:given-name>Susan O</ce:given-name><ce:surname>Lewin</ce:surname><ce:degrees>MD</ce:degrees><ce:cross-ref refid="aff1"><ce:sup>a</ce:sup></ce:cross-ref></ce:author><ce:affiliation id="aff1"><ce:label>a</ce:label><ce:textfn>Shodair Children's Hospital, Helena Montana (JMO, SOL)</ce:textfn></ce:affiliation><ce:affiliation id="aff2"><ce:label>b</ce:label><ce:textfn>Universities of Washington/Seattle and Wisconsin/Madison and Montana State University, Bozeman, Montana</ce:textfn></ce:affiliation><ce:correspondence id="cor1"><ce:label>*</ce:label><ce:text>Correspondence address: John M. Opitz, Shodair Children's Specialty Hospital, Box 5539, Helena, MT 59604, USA.</ce:text></ce:correspondence></ce:author-group><ce:abstract id="ab1"><ce:abstract-sec><ce:simple-para id="SP0005">The current status of clinical genetic and pathogenetic knowledge in Rett syndrome is reviewed and updated. Some of the concepts which are highlighted include among others, causal homogeneity vs heterogeneity; the difficulty of dealing with potential variability while the possibility of heterogeneity still exists; progress in examining genetic hypotheses. We review our experience with 8 new patients, note the evidence for the presence of congenital hypotonia in all and several instances of minor anomalies and again raise the issue of whether girls with the Rett syndrome are in fact normal from the time of birth and in early infancy until the characteristic phenotype is recognizable. Previous recommendations for standardized international history, examination and investigation protocols are strongly reinforced, and the question as to who should study brains of Rett syndrome patients is raised by a parent. As is the case in most conditions now being studied by molecular geneticists, finding a marker will be a major etiologic breakthrough, but the work of delineating the pathogenesis will remain to be done.</ce:simple-para></ce:abstract-sec></ce:abstract><ce:keywords class="keyword"><ce:section-title>Key words</ce:section-title><ce:keyword><ce:text>Rett syndrome</ce:text></ce:keyword><ce:keyword><ce:text>review</ce:text></ce:keyword><ce:keyword><ce:text>genetic hypotheses</ce:text></ce:keyword></ce:keywords></head><tail><ce:bibliography id="R0005"><ce:section-title>References</ce:section-title><ce:bibliography-sec id="RS0005"><ce:bib-reference id="bib1"><ce:label>1.</ce:label><sb:reference><sb:contribution><sb:authors><sb:author><ce:given-name>JM</ce:given-name><ce:surname>Opitz</ce:surname></sb:author></sb:authors><sb:title><sb:maintitle>Editorial comments: Rett syndrome: some comments of terminology and diagnosis</sb:maintitle></sb:title></sb:contribution><sb:host><sb:issue><sb:series><sb:title><sb:maintitle>Am J Med Genet</sb:maintitle></sb:title><sb:volume-nr>24</sb:volume-nr></sb:series><sb:issue-nr>Suppl 1</sb:issue-nr><sb:date>1986</sb:date></sb:issue><sb:pages><sb:first-page>27</sb:first-page><sb:last-page>37</sb:last-page></sb:pages></sb:host></sb:reference></ce:bib-reference><ce:bib-reference id="bib2"><ce:label>2.</ce:label><sb:reference><sb:contribution><sb:authors><sb:author><ce:given-name>R</ce:given-name><ce:surname>Rieger</ce:surname></sb:author><sb:author><ce:given-name>A</ce:given-name><ce:surname>Michaelis</ce:surname></sb:author><sb:author><ce:given-name>MM</ce:given-name><ce:surname>Green</ce:surname></sb:author></sb:authors></sb:contribution><sb:host><sb:edited-book><sb:title><sb:maintitle>A glossary of genetics and cytogenetics</sb:maintitle></sb:title><sb:edition>3rd ed.</sb:edition><sb:date>1968</sb:date><sb:publisher><sb:name>Springer Verlag</sb:name><sb:location>New York</sb:location></sb:publisher></sb:edited-book></sb:host></sb:reference></ce:bib-reference><ce:bib-reference id="bib3"><ce:label>3.</ce:label><sb:reference><sb:host><sb:edited-book><sb:title><sb:maintitle>Stedman's illustrated medical dictionary</sb:maintitle></sb:title><sb:edition>24th ed.</sb:edition><sb:date>1982</sb:date><sb:publisher><sb:name>Williams and Wilkins</sb:name><sb:location>Baltimore-London</sb:location></sb:publisher></sb:edited-book></sb:host></sb:reference></ce:bib-reference><ce:bib-reference id="bib4"><ce:label>4.</ce:label><sb:reference><sb:contribution><sb:authors><sb:author><ce:given-name>VA</ce:given-name><ce:surname>McKusick</ce:surname></sb:author></sb:authors></sb:contribution><sb:host><sb:edited-book><sb:title><sb:maintitle>Mendelian inheritance in man. Catalogs of autosomal dominant, autosomal recessive and X-linked phenotypes</sb:maintitle></sb:title><sb:edition>7th ed.</sb:edition><sb:date>1986</sb:date><sb:publisher><sb:name>Johns Hopkins Univ. Press</sb:name><sb:location>Baltimore</sb:location></sb:publisher></sb:edited-book></sb:host></sb:reference></ce:bib-reference><ce:bib-reference id="bib5"><ce:label>5.</ce:label><sb:reference><sb:contribution><sb:authors><sb:author><ce:given-name>H</ce:given-name><ce:surname>Nachtsheim</ce:surname></sb:author></sb:authors><sb:title><sb:maintitle>Mutation und Phänokopie bei Säugetier und Mensch. Ihre theoretische und praktische Bedeutung für Genetik und Eugenik</sb:maintitle></sb:title></sb:contribution><sb:host><sb:issue><sb:series><sb:title><sb:maintitle>Experientia</sb:maintitle></sb:title><sb:volume-nr>13</sb:volume-nr></sb:series><sb:date>1957</sb:date></sb:issue><sb:pages><sb:first-page>57</sb:first-page></sb:pages></sb:host></sb:reference></ce:bib-reference><ce:bib-reference id="bib6"><ce:label>6.</ce:label><sb:reference><sb:contribution><sb:authors><sb:author><ce:given-name>SL</ce:given-name><ce:surname>Hyman</ce:surname></sb:author><sb:author><ce:given-name>ML</ce:given-name><ce:surname>Batshaw</ce:surname></sb:author></sb:authors><sb:title><sb:maintitle>A case of ornithine transcarbamylase deficiency with Rett syndrome manifestations</sb:maintitle></sb:title></sb:contribution><sb:host><sb:issue><sb:series><sb:title><sb:maintitle>Am J Med Genet</sb:maintitle></sb:title><sb:volume-nr>24</sb:volume-nr></sb:series><sb:issue-nr>Suppl 1</sb:issue-nr><sb:date>1986</sb:date></sb:issue><sb:pages><sb:first-page>339</sb:first-page><sb:last-page>343</sb:last-page></sb:pages></sb:host></sb:reference></ce:bib-reference><ce:bib-reference id="bib7"><ce:label>7.</ce:label><sb:reference><sb:contribution><sb:authors><sb:author><ce:given-name>A</ce:given-name><ce:surname>Rett</ce:surname></sb:author></sb:authors></sb:contribution><sb:host><sb:book><sb:title><sb:maintitle>Über ein zerebral-atrophisches Syndrom bei Hyperammonämie</sb:maintitle></sb:title><sb:date>1966</sb:date><sb:publisher><sb:name>Brüder Hollinek</sb:name><sb:location>J Wien</sb:location></sb:publisher></sb:book></sb:host></sb:reference></ce:bib-reference><ce:bib-reference id="bib8"><ce:label>8.</ce:label><sb:reference><sb:contribution><sb:authors><sb:author><ce:given-name>A</ce:given-name><ce:surname>Rett</ce:surname></sb:author><sb:author><ce:given-name>W</ce:given-name><ce:surname>Stöckl</ce:surname></sb:author></sb:authors><sb:title><sb:maintitle>Untersuchungen über den Ammoniakgehalt im Blutserum hirngeschädigter Kinder</sb:maintitle></sb:title></sb:contribution><sb:host><sb:issue><sb:series><sb:title><sb:maintitle>Wien Med Wochenschr</sb:maintitle></sb:title><sb:volume-nr>118</sb:volume-nr></sb:series><sb:date>1968</sb:date></sb:issue><sb:pages><sb:first-page>3114</sb:first-page></sb:pages></sb:host></sb:reference></ce:bib-reference><ce:bib-reference id="bib9"><ce:label>9.</ce:label><sb:reference><sb:contribution><sb:authors><sb:author><ce:given-name>ML</ce:given-name><ce:surname>Batshaw</ce:surname></sb:author><sb:author><ce:given-name>M</ce:given-name><ce:surname>Msall</ce:surname></sb:author><sb:author><ce:given-name>AL</ce:given-name><ce:surname>Beaudet</ce:surname></sb:author><sb:author><ce:given-name>J</ce:given-name><ce:surname>Trojak</ce:surname></sb:author></sb:authors><sb:title><sb:maintitle>Risk of serious illness in heterozygotes for ornithine transcarbamylase deficiency</sb:maintitle></sb:title></sb:contribution><sb:host><sb:issue><sb:series><sb:title><sb:maintitle>J Pediatr</sb:maintitle></sb:title><sb:volume-nr>108</sb:volume-nr></sb:series><sb:date>1986</sb:date></sb:issue><sb:pages><sb:first-page>236</sb:first-page><sb:last-page>241</sb:last-page></sb:pages></sb:host></sb:reference></ce:bib-reference><ce:bib-reference id="bib10"><ce:label>10.</ce:label><sb:reference><sb:contribution><sb:authors><sb:author><ce:given-name>F</ce:given-name><ce:surname>Hanefeld</ce:surname></sb:author><sb:author><ce:given-name>U</ce:given-name><ce:surname>Hanefeld</ce:surname></sb:author><sb:author><ce:given-name>E</ce:given-name><ce:surname>Wilichowski</ce:surname></sb:author><sb:author><ce:given-name>J</ce:given-name><ce:surname>Schmidtke</ce:surname></sb:author></sb:authors><sb:title><sb:maintitle>Rett syndrome — Search for genetic markers</sb:maintitle></sb:title></sb:contribution><sb:host><sb:issue><sb:series><sb:title><sb:maintitle>Am J Med Genet</sb:maintitle></sb:title><sb:volume-nr>24</sb:volume-nr></sb:series><sb:issue-nr>Suppl 1</sb:issue-nr><sb:date>1986</sb:date></sb:issue><sb:pages><sb:first-page>377</sb:first-page><sb:last-page>382</sb:last-page></sb:pages></sb:host></sb:reference></ce:bib-reference><ce:bib-reference id="bib11"><ce:label>11.</ce:label><sb:reference><sb:contribution><sb:authors><sb:author><ce:given-name>K</ce:given-name><ce:surname>Gordon</ce:surname></sb:author><sb:author><ce:given-name>VM</ce:given-name><ce:surname>Siu</ce:surname></sb:author><sb:author><ce:given-name>F</ce:given-name><ce:surname>Sergovich</ce:surname></sb:author><sb:author><ce:given-name>J</ce:given-name><ce:surname>Jung</ce:surname></sb:author></sb:authors><sb:title><sb:maintitle>18q-associated with Rett syndrome. Program and abstracts</sb:maintitle></sb:title></sb:contribution><sb:host><sb:edited-book><sb:title><sb:maintitle>DW Smith Conference on Morphogenesis</sb:maintitle></sb:title><sb:date>1986</sb:date><sb:publisher><sb:name>VT</sb:name><sb:location>Burlington</sb:location></sb:publisher></sb:edited-book></sb:host></sb:reference></ce:bib-reference><ce:bib-reference id="bib12"><ce:label>12.</ce:label><sb:reference><sb:contribution><sb:authors><sb:author><ce:given-name>C</ce:given-name><ce:surname>Bachmann</ce:surname></sb:author><sb:author><ce:given-name>J</ce:given-name><ce:surname>Schaub</ce:surname></sb:author><sb:author><ce:given-name>JP</ce:given-name><ce:surname>Colombo</ce:surname></sb:author><sb:author><ce:given-name>BJ</ce:given-name><ce:surname>Burri</ce:surname></sb:author><sb:author><ce:given-name>L</ce:given-name><ce:surname>Sweetman</ce:surname></sb:author><sb:author><ce:given-name>B</ce:given-name><ce:surname>Wolf</ce:surname></sb:author></sb:authors><sb:title><sb:maintitle>Rett syndrome revisited: a patient with biotin dependency</sb:maintitle></sb:title></sb:contribution><sb:host><sb:issue><sb:series><sb:title><sb:maintitle>Eur J Pediatr</sb:maintitle></sb:title><sb:volume-nr>144</sb:volume-nr></sb:series><sb:date>1986</sb:date></sb:issue><sb:pages><sb:first-page>563</sb:first-page><sb:last-page>566</sb:last-page></sb:pages></sb:host></sb:reference></ce:bib-reference><ce:bib-reference id="bib13"><ce:label>13.</ce:label><sb:reference><sb:contribution><sb:authors><sb:author><ce:given-name>M</ce:given-name><ce:surname>Nicola</ce:surname></sb:author></sb:authors><sb:title><sb:maintitle>Morphological aspects of Rett syndrome</sb:maintitle></sb:title></sb:contribution><sb:host><sb:issue><sb:series><sb:title><sb:maintitle>Infans Cerebropathicus</sb:maintitle></sb:title><sb:volume-nr>1</sb:volume-nr></sb:series><sb:date>1976</sb:date></sb:issue><sb:pages><sb:first-page>81</sb:first-page><sb:last-page>107</sb:last-page></sb:pages></sb:host></sb:reference></ce:bib-reference><ce:bib-reference id="bib14"><ce:label>14.</ce:label><ce:other-ref><ce:textref>Coleman M, Brubaker J, Hunter K, Smith G. Rett syndrome: a survey of North American patients (in preparation).</ce:textref></ce:other-ref></ce:bib-reference><ce:bib-reference id="bib15"><ce:label>15.</ce:label><sb:reference><sb:contribution><sb:authors><sb:author><ce:given-name>W</ce:given-name><ce:surname>Killian</ce:surname></sb:author></sb:authors><sb:title><sb:maintitle>On the genetics of the Rett syndrome: analysis of family and pedigree data</sb:maintitle></sb:title></sb:contribution><sb:host><sb:issue><sb:series><sb:title><sb:maintitle>Am J Med Genet</sb:maintitle></sb:title><sb:volume-nr>24</sb:volume-nr></sb:series><sb:issue-nr>Suppl 1</sb:issue-nr><sb:date>1986</sb:date></sb:issue><sb:pages><sb:first-page>369</sb:first-page><sb:last-page>376</sb:last-page></sb:pages></sb:host></sb:reference></ce:bib-reference><ce:bib-reference id="bib16"><ce:label>16.</ce:label><sb:reference><sb:contribution><sb:authors><sb:author><ce:given-name>M</ce:given-name><ce:surname>Anvret</ce:surname></sb:author><sb:author><ce:given-name>I-M</ce:given-name><ce:surname>Johanssen</ce:surname></sb:author><sb:author><ce:given-name>J</ce:given-name><ce:surname>Wahlström</ce:surname></sb:author><sb:author><ce:given-name>B</ce:given-name><ce:surname>Hagberg</ce:surname></sb:author></sb:authors><sb:title><sb:maintitle>Linkage analysis of the Rett syndrome using human chromosomal specific probes</sb:maintitle></sb:title></sb:contribution><sb:host><sb:issue><sb:series><sb:title><sb:maintitle>Brain Dev (Tokyo)</sb:maintitle></sb:title><sb:volume-nr>7</sb:volume-nr></sb:series><sb:date>1985</sb:date></sb:issue><sb:pages><sb:first-page>361</sb:first-page><sb:last-page>364</sb:last-page></sb:pages></sb:host></sb:reference></ce:bib-reference><ce:bib-reference id="bib17"><ce:label>17.</ce:label><sb:reference><sb:contribution><sb:authors><sb:author><ce:given-name>M</ce:given-name><ce:surname>Al-Mateen</ce:surname></sb:author><sb:author><ce:given-name>M</ce:given-name><ce:surname>Philippart</ce:surname></sb:author><sb:author><ce:given-name>D</ce:given-name><ce:surname>Shields</ce:surname></sb:author></sb:authors><sb:title><sb:maintitle>Rett syndrome. A commonly overlooked progressive encephalopathy in girls</sb:maintitle></sb:title></sb:contribution><sb:host><sb:issue><sb:series><sb:title><sb:maintitle>Am J Dis Child</sb:maintitle></sb:title><sb:volume-nr>140</sb:volume-nr></sb:series><sb:date>1986</sb:date></sb:issue><sb:pages><sb:first-page>761</sb:first-page><sb:last-page>765</sb:last-page></sb:pages></sb:host></sb:reference></ce:bib-reference><ce:bib-reference id="bib18"><ce:label>18.</ce:label><sb:reference><sb:contribution><sb:authors><sb:author><ce:given-name>VM</ce:given-name><ce:surname>Riccardi</ce:surname></sb:author></sb:authors><sb:title><sb:maintitle>The Rett syndrome: genetics and the future</sb:maintitle></sb:title></sb:contribution><sb:host><sb:issue><sb:series><sb:title><sb:maintitle>Am J Med Genet</sb:maintitle></sb:title><sb:volume-nr>24</sb:volume-nr></sb:series><sb:issue-nr>Suppl 1</sb:issue-nr><sb:date>1986</sb:date></sb:issue><sb:pages><sb:first-page>389</sb:first-page><sb:last-page>402</sb:last-page></sb:pages></sb:host></sb:reference></ce:bib-reference><ce:bib-reference id="bib19"><ce:label>19.</ce:label><sb:reference><sb:contribution><sb:authors><sb:author><ce:given-name>B</ce:given-name><ce:surname>Hagberg</ce:surname></sb:author></sb:authors></sb:contribution><sb:host><sb:edited-book><sb:title><sb:maintitle>Data presented at the 4th Rett Conference</sb:maintitle></sb:title><sb:conference>Vienna</sb:conference><sb:date>1986</sb:date></sb:edited-book></sb:host></sb:reference></ce:bib-reference><ce:bib-reference id="bib20"><ce:label>20.</ce:label><sb:reference><sb:contribution><sb:authors><sb:author><ce:given-name>H</ce:given-name><ce:surname>Moser</ce:surname></sb:author></sb:authors></sb:contribution><sb:host><sb:edited-book><sb:title><sb:maintitle>Data presented at the 4th Rett Conference</sb:maintitle></sb:title><sb:conference>Vienna</sb:conference><sb:date>1986</sb:date></sb:edited-book></sb:host></sb:reference></ce:bib-reference><ce:bib-reference id="bib21"><ce:label>21.</ce:label><sb:reference><sb:contribution><sb:authors><sb:author><ce:given-name>U</ce:given-name><ce:surname>Hillig</ce:surname></sb:author></sb:authors><sb:title><sb:maintitle>On the genetics of the Rett syndrome</sb:maintitle></sb:title></sb:contribution><sb:host><sb:issue><sb:series><sb:title><sb:maintitle>Brain Dev (Tokyo)</sb:maintitle></sb:title><sb:volume-nr>7</sb:volume-nr></sb:series><sb:date>1985</sb:date></sb:issue><sb:pages><sb:first-page>368</sb:first-page><sb:last-page>371</sb:last-page></sb:pages></sb:host></sb:reference></ce:bib-reference><ce:bib-reference id="bib22"><ce:label>22.</ce:label><sb:reference><sb:contribution><sb:authors><sb:author><ce:given-name>DE</ce:given-name><ce:surname>Comings</ce:surname></sb:author></sb:authors><sb:title><sb:maintitle>The genetics of the Rett syndrome: the consequences of a disorder where every case is a new mutation</sb:maintitle></sb:title></sb:contribution><sb:host><sb:issue><sb:series><sb:title><sb:maintitle>Am J Med Genet</sb:maintitle></sb:title><sb:volume-nr>24</sb:volume-nr></sb:series><sb:issue-nr>Suppl 1</sb:issue-nr><sb:date>1986</sb:date></sb:issue><sb:pages><sb:first-page>383</sb:first-page><sb:last-page>388\</sb:last-page></sb:pages></sb:host></sb:reference></ce:bib-reference><ce:bib-reference id="bib23"><ce:label>23.</ce:label><ce:other-ref><ce:textref>Morrissey P. Personal communication, 1986.</ce:textref></ce:other-ref></ce:bib-reference><ce:bib-reference id="bib24"><ce:label>24.</ce:label><ce:other-ref><ce:textref>Sever LE. Personal Communication, 1986.</ce:textref></ce:other-ref></ce:bib-reference></ce:bibliography-sec></ce:bibliography></tail></article></istex:document></istex:metadataXml><mods version="3.6"><titleInfo lang="en"><title>Rett syndrome—a review and discussion of syndrome delineation and syndrome definition</title></titleInfo><titleInfo type="alternative" lang="en" contentType="CDATA"><title>Rett syndrome—a review and discussion of syndrome delineation and syndrome definition</title></titleInfo><name type="personal"><namePart type="given">John M</namePart><namePart type="family">Opitz</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Shodair Children's Hospital, Helena Montana (JMO, SOL)</affiliation><affiliation>Universities of Washington/Seattle and Wisconsin/Madison and Montana State University, Bozeman, Montana</affiliation><affiliation>Correspondence address: John M. Opitz, Shodair Children's Specialty Hospital, Box 5539, Helena, MT 59604, USA.</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Susan O</namePart><namePart type="family">Lewin</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Shodair Children's Hospital, Helena Montana (JMO, SOL)</affiliation><role><roleTerm type="text">author</roleTerm></role></name><typeOfResource>text</typeOfResource><genre type="research-article" displayLabel="Full-length article"></genre><originInfo><publisher>ELSEVIER</publisher><dateIssued encoding="w3cdtf">1987</dateIssued><copyrightDate encoding="w3cdtf">1987</copyrightDate></originInfo><language><languageTerm type="code" authority="iso639-2b">eng</languageTerm><languageTerm type="code" authority="rfc3066">en</languageTerm></language><physicalDescription><internetMediaType>text/html</internetMediaType></physicalDescription><abstract>The current status of clinical genetic and pathogenetic knowledge in Rett syndrome is reviewed and updated. Some of the concepts which are highlighted include among others, causal homogeneity vs heterogeneity; the difficulty of dealing with potential variability while the possibility of heterogeneity still exists; progress in examining genetic hypotheses. We review our experience with 8 new patients, note the evidence for the presence of congenital hypotonia in all and several instances of minor anomalies and again raise the issue of whether girls with the Rett syndrome are in fact normal from the time of birth and in early infancy until the characteristic phenotype is recognizable. Previous recommendations for standardized international history, examination and investigation protocols are strongly reinforced, and the question as to who should study brains of Rett syndrome patients is raised by a parent. As is the case in most conditions now being studied by molecular geneticists, finding a marker will be a major etiologic breakthrough, but the work of delineating the pathogenesis will remain to be done.</abstract><subject lang="en"><genre>Key words</genre><topic>Rett syndrome</topic><topic>review</topic><topic>genetic hypotheses</topic></subject><relatedItem type="host"><titleInfo><title>Brain and Development</title></titleInfo><titleInfo type="abbreviated"><title>BRADEV</title></titleInfo><genre type="journal">journal</genre><originInfo><dateIssued encoding="w3cdtf">1987</dateIssued></originInfo><identifier type="ISSN">0387-7604</identifier><identifier type="PII">S0387-7604(87)X8061-4</identifier><part><date>1987</date><detail type="volume"><number>9</number><caption>vol.</caption></detail><detail type="issue"><number>5</number><caption>no.</caption></detail><extent unit="issue pages"><start>445</start><end>563</end></extent><extent unit="pages"><start>445</start><end>450</end></extent></part></relatedItem><identifier type="istex">0BCF52E60A0FFC8E6973516D7D3B2FCFD178E77C</identifier><identifier type="DOI">10.1016/S0387-7604(87)80061-X</identifier><identifier type="PII">S0387-7604(87)80061-X</identifier><identifier type="ArticleID">80061</identifier><recordInfo><recordContentSource>ELSEVIER</recordContentSource></recordInfo></mods></metadata><serie></serie></istex></record>Pour manipuler ce document sous Unix (Dilib)
EXPLOR_STEP=$WICRI_ROOT/Wicri/Sante/explor/LymphedemaV1/Data/Istex/Corpus
HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 000544 | SxmlIndent | more
Ou
HfdSelect -h $EXPLOR_AREA/Data/Istex/Corpus/biblio.hfd -nk 000544 | SxmlIndent | more
Pour mettre un lien sur cette page dans le réseau Wicri
{{Explor lien
|wiki= Wicri/Sante
|area= LymphedemaV1
|flux= Istex
|étape= Corpus
|type= RBID
|clé= ISTEX:0BCF52E60A0FFC8E6973516D7D3B2FCFD178E77C
|texte= Rett syndrome—a review and discussion of syndrome delineation and syndrome definition
}}
| This area was generated with Dilib version V0.6.31. |  |