New multiple congenital anomalies/mental retardation syndrome with cardio‐facio‐cutaneous involvement—the CFC syndrome
Identifieur interne : 005047 ( Istex/Corpus ); précédent : 005046; suivant : 005048New multiple congenital anomalies/mental retardation syndrome with cardio‐facio‐cutaneous involvement—the CFC syndrome
Auteurs : M. Reynolds ; Giovanni Neri ; Jurgen P. Herrmann ; Bruce Blumberg ; James G. Coldwell ; Paul V. Miles ; John M. Opitz ; John C. CareySource :
- American Journal of Medical Genetics [ 0148-7299 ] ; 1986-11.
Abstract
Eight patients (4 males, 4 females) were affected with a previously undefined multiple congenital anomalies/mental retardation syndrome which was designated the Cardio‐Facio‐Cutaneous (CFC) syndrome and which includes congenital heart defects, characteristic facial appearance, ectodermal abnormalities, and growth failure. Cardiac defects were variable, the most common being pulmonic stenosis and atrial septal defect. Typical facial characteristics were high forehead with bitemporal constriction, hypoplasia of supraorbital ridges, antimongoloid slant of palpebral fissures, depressed bridge of nose, and posteriorly angulated ears with prominent helices. The hair was usually sparse and friable. Skin changes varied from patchy hyperkeratosis to a severe generalized ichthyosis‐like condition. All cases were sporadic in occurrence, there was no family history of consanguinity, and chromosomes were normal. Although presumed to be genetic, the cause of the CFC syndrome remains unknown.
Url:
DOI: 10.1002/ajmg.1320250303
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Box 5539, Helena, MT 59604</mods:affiliation></affiliation></author><author><name sortKey="Neri, Giovanni" sort="Neri, Giovanni" uniqKey="Neri G" first="Giovanni" last="Neri">Giovanni Neri</name><affiliation><mods:affiliation>Instituto di Genetica Umana, Facolta di Medicina “A Gemelli” UCSC, Rome, Italy</mods:affiliation></affiliation></author><author><name sortKey="Herrmann, Jurgen P" sort="Herrmann, Jurgen P" uniqKey="Herrmann J" first="Jurgen P." last="Herrmann">Jurgen P. 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Reynolds</name><affiliation><mods:affiliation>Shodair Children's Hospital, Helena, Montana</mods:affiliation></affiliation><affiliation><mods:affiliation>Department of Medical Genetics, Shodair Children's Hospital, P.O. Box 5539, Helena, MT 59604</mods:affiliation></affiliation></author><author><name sortKey="Neri, Giovanni" sort="Neri, Giovanni" uniqKey="Neri G" first="Giovanni" last="Neri">Giovanni Neri</name><affiliation><mods:affiliation>Instituto di Genetica Umana, Facolta di Medicina “A Gemelli” UCSC, Rome, Italy</mods:affiliation></affiliation></author><author><name sortKey="Herrmann, Jurgen P" sort="Herrmann, Jurgen P" uniqKey="Herrmann J" first="Jurgen P." last="Herrmann">Jurgen P. Herrmann</name><affiliation><mods:affiliation>Great Lakes Genetics SC, Wauwatosa, Wisconsin</mods:affiliation></affiliation></author><author><name sortKey="Blumberg, Bruce" sort="Blumberg, Bruce" uniqKey="Blumberg B" first="Bruce" last="Blumberg">Bruce Blumberg</name><affiliation><mods:affiliation>Permanente Medical Group, San Francisco, California</mods:affiliation></affiliation></author><author><name sortKey="Coldwell, James G" sort="Coldwell, James G" uniqKey="Coldwell J" first="James G." last="Coldwell">James G. Coldwell</name><affiliation><mods:affiliation>Children's Medical Center, Tulsa, Oklahoma</mods:affiliation></affiliation></author><author><name sortKey="Miles, Paul V" sort="Miles, Paul V" uniqKey="Miles P" first="Paul V." last="Miles">Paul V. Miles</name><affiliation><mods:affiliation>Pediatric Center, Twin Falls, Idaho</mods:affiliation></affiliation></author><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</mods:affiliation></affiliation></author><author><name sortKey="Carey, John C" sort="Carey, John C" uniqKey="Carey J" first="John C." last="Carey">John C. Carey</name></author></analytic><monogr></monogr><series><title level="j" type="main">American Journal of Medical Genetics</title><title level="j" type="alt">AMERICAN JOURNAL OF MEDICAL GENETICS</title><idno type="ISSN">0148-7299</idno><idno type="eISSN">1096-8628</idno><imprint><biblScope unit="vol">25</biblScope><biblScope unit="issue">3</biblScope><biblScope unit="page" from="413">413</biblScope><biblScope unit="page" to="427">427</biblScope><biblScope unit="page-count">15</biblScope><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>New York</pubPlace><date type="published" when="1986-11">1986-11</date></imprint><idno type="ISSN">0148-7299</idno></series></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0148-7299</idno></seriesStmt></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Eight patients (4 males, 4 females) were affected with a previously undefined multiple congenital anomalies/mental retardation syndrome which was designated the Cardio‐Facio‐Cutaneous (CFC) syndrome and which includes congenital heart defects, characteristic facial appearance, ectodermal abnormalities, and growth failure. Cardiac defects were variable, the most common being pulmonic stenosis and atrial septal defect. Typical facial characteristics were high forehead with bitemporal constriction, hypoplasia of supraorbital ridges, antimongoloid slant of palpebral fissures, depressed bridge of nose, and posteriorly angulated ears with prominent helices. The hair was usually sparse and friable. Skin changes varied from patchy hyperkeratosis to a severe generalized ichthyosis‐like condition. All cases were sporadic in occurrence, there was no family history of consanguinity, and chromosomes were normal. Although presumed to be genetic, the cause of the CFC syndrome remains unknown.</div></front></TEI><istex><corpusName>wiley</corpusName><keywords><teeft><json:string>centile</json:string><json:string>helix</json:string><json:string>noonan</json:string><json:string>syndrome</json:string><json:string>abnormality</json:string><json:string>ichthyosis</json:string><json:string>chromosome</json:string><json:string>noonan syndrome</json:string><json:string>ptosis</json:string><json:string>auricle</json:string><json:string>hypoplasia</json:string><json:string>epicanthic</json:string><json:string>hemangioma</json:string><json:string>cranial</json:string><json:string>stenosis</json:string><json:string>supraorbital</json:string><json:string>pulmonic</json:string><json:string>hyperkeratosis</json:string><json:string>psychomotor</json:string><json:string>posteriorly</json:string><json:string>opitz</json:string><json:string>hypotonia</json:string><json:string>angulated</json:string><json:string>curly hair</json:string><json:string>supraorbital ridges</json:string><json:string>epicanthic folds</json:string><json:string>high cranial vault</json:string><json:string>extensor surfaces</json:string><json:string>depressed bridge</json:string><json:string>posterior angulation</json:string><json:string>cardiac</json:string><json:string>psychomotor development</json:string><json:string>palpebral fissures</json:string><json:string>ectodermal abnormalities</json:string><json:string>mental retardation</json:string><json:string>posteriorly angulated auricles</json:string><json:string>family history</json:string><json:string>white girl</json:string><json:string>skin biopsy</json:string><json:string>pulmonic stenosis</json:string><json:string>congenital</json:string><json:string>defect</json:string><json:string>growth failure</json:string><json:string>cardiac evaluation</json:string><json:string>developmental delay</json:string><json:string>bitemporal constriction</json:string><json:string>arched palate</json:string><json:string>costal margin</json:string><json:string>ulnar loops</json:string><json:string>antimongoloid slant</json:string><json:string>facial appearance</json:string><json:string>heart murmur</json:string><json:string>cavernous hemangioma</json:string><json:string>large head</json:string><json:string>retardation</json:string><json:string>palate</json:string><json:string>sporadic occurrence</json:string><json:string>growth retardation</json:string><json:string>cardiac defects</json:string><json:string>birth defects conference</json:string><json:string>upper eyelids</json:string><json:string>other patients</json:string><json:string>anteverted nostrils</json:string><json:string>atrial septa1 defect</json:string><json:string>transverse portion</json:string><json:string>medical genetics</json:string><json:string>congenital heart defects</json:string><json:string>mitochondrial inheritance</json:string><json:string>fetal movements</json:string><json:string>radial loop</json:string><json:string>umbilical hernia</json:string><json:string>dermal ridges</json:string><json:string>hallucal areas</json:string><json:string>disconjugate gaze</json:string><json:string>apgar scores</json:string><json:string>mild hydrocephalus</json:string><json:string>sparse hair</json:string><json:string>prominent forehead</json:string><json:string>tendon reflexes</json:string><json:string>note ptosis</json:string><json:string>thick helices</json:string><json:string>cranial vault</json:string><json:string>follicular hyperkeratosis</json:string><json:string>nail dystrophy</json:string><json:string>endocardia1 cushion defect</json:string><json:string>lower limbs</json:string><json:string>generalized dysrhythmia grade</json:string><json:string>cortical atrophy</json:string><json:string>prominent eyes</json:string><json:string>body size</json:string><json:string>unpleasant body odor</json:string><json:string>clinical manifestations</json:string><json:string>several patients</json:string><json:string>renal disease</json:string><json:string>genet opitz</json:string><json:string>vault</json:string><json:string>hypertrophy</json:string></teeft></keywords><author><json:item><name>Dr. Reynolds</name><affiliations><json:string>Shodair Children's Hospital, Helena, Montana</json:string><json:string>Department of Medical Genetics, Shodair Children's Hospital, P.O. Box 5539, Helena, MT 59604</json:string></affiliations></json:item><json:item><name>Giovanni Neri</name><affiliations><json:string>Instituto di Genetica Umana, Facolta di Medicina “A Gemelli” UCSC, Rome, Italy</json:string></affiliations></json:item><json:item><name>Jurgen P. Herrmann</name><affiliations><json:string>Great Lakes Genetics SC, Wauwatosa, Wisconsin</json:string></affiliations></json:item><json:item><name>Bruce Blumberg</name><affiliations><json:string>Permanente Medical Group, San Francisco, California</json:string></affiliations></json:item><json:item><name>James G. Coldwell</name><affiliations><json:string>Children's Medical Center, Tulsa, Oklahoma</json:string></affiliations></json:item><json:item><name>Paul V. Miles</name><affiliations><json:string>Pediatric Center, Twin Falls, Idaho</json:string></affiliations></json:item><json:item><name>John M. Opitz</name><affiliations><json:string>Shodair Children's Hospital, Helena, Montana</json:string></affiliations></json:item><json:item><name>John C. Carey</name></json:item></author><subject><json:item><lang><json:string>eng</json:string></lang><value>multiple congenital anomalies/mental retardation (MCA/MR) syndrome</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>cardio‐facio‐cutaneous (CFC) syndrome</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>heart defects</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>ichthyosis</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>hypotrichosis</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>ectodermal abnormalities</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>growth failure</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>sporadic occurrence</value></json:item></subject><articleId><json:string>AJMG1320250303</json:string></articleId><language><json:string>eng</json:string></language><originalGenre><json:string>article</json:string></originalGenre><abstract>Eight patients (4 males, 4 females) were affected with a previously undefined multiple congenital anomalies/mental retardation syndrome which was designated the Cardio‐Facio‐Cutaneous (CFC) syndrome and which includes congenital heart defects, characteristic facial appearance, ectodermal abnormalities, and growth failure. Cardiac defects were variable, the most common being pulmonic stenosis and atrial septal defect. Typical facial characteristics were high forehead with bitemporal constriction, hypoplasia of supraorbital ridges, antimongoloid slant of palpebral fissures, depressed bridge of nose, and posteriorly angulated ears with prominent helices. The hair was usually sparse and friable. Skin changes varied from patchy hyperkeratosis to a severe generalized ichthyosis‐like condition. All cases were sporadic in occurrence, there was no family history of consanguinity, and chromosomes were normal. Although presumed to be genetic, the cause of the CFC syndrome remains unknown.</abstract><qualityIndicators><score>6.025</score><pdfVersion>1.3</pdfVersion><pdfPageSize>486 x 719.759 pts</pdfPageSize><refBibsNative>true</refBibsNative><abstractCharCount>992</abstractCharCount><pdfWordCount>4465</pdfWordCount><pdfCharCount>27635</pdfCharCount><pdfPageCount>15</pdfPageCount><abstractWordCount>130</abstractWordCount></qualityIndicators><title>New multiple congenital anomalies/mental retardation syndrome with cardio‐facio‐cutaneous involvement—the CFC syndrome</title><genre><json:string>article</json:string></genre><host><title>American Journal of Medical Genetics</title><language><json:string>unknown</json:string></language><doi><json:string>10.1002/(ISSN)1096-8628</json:string></doi><issn><json:string>0148-7299</json:string></issn><eissn><json:string>1096-8628</json:string></eissn><publisherId><json:string>AJMG</json:string></publisherId><volume>25</volume><issue>3</issue><pages><first>413</first><last>427</last><total>15</total></pages><genre><json:string>journal</json:string></genre><subject><json:item><value>Article</value></json:item></subject></host><categories><inist><json:string>sciences appliquees, technologies et medecines</json:string><json:string>sciences biologiques et medicales</json:string><json:string>sciences medicales</json:string></inist></categories><publicationDate>1986</publicationDate><copyrightDate>1986</copyrightDate><doi><json:string>10.1002/ajmg.1320250303</json:string></doi><id>AB289662631E06AA6D6BC98DBA5A2A6563A0E1AC</id><score>1</score><fulltext><json:item><extension>pdf</extension><original>true</original><mimetype>application/pdf</mimetype><uri>https://api.istex.fr/document/AB289662631E06AA6D6BC98DBA5A2A6563A0E1AC/fulltext/pdf</uri></json:item><json:item><extension>zip</extension><original>false</original><mimetype>application/zip</mimetype><uri>https://api.istex.fr/document/AB289662631E06AA6D6BC98DBA5A2A6563A0E1AC/fulltext/zip</uri></json:item><istex:fulltextTEI uri="https://api.istex.fr/document/AB289662631E06AA6D6BC98DBA5A2A6563A0E1AC/fulltext/tei"><teiHeader><fileDesc><titleStmt><title level="a" type="main" xml:lang="en">New multiple congenital anomalies/mental retardation syndrome with cardio‐facio‐cutaneous involvement—the CFC syndrome</title></titleStmt><publicationStmt><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>New York</pubPlace><availability><licence>Copyright © 1986 Wiley‐Liss, Inc., A Wiley Company</licence></availability><date type="published" when="1986-11"></date></publicationStmt><notesStmt><note type="content-type" subtype="article" source="article" scheme="https://content-type.data.istex.fr/ark:/67375/XTP-6N5SZHKN-D">article</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="article"><analytic><title level="a" type="main" xml:lang="en">New multiple congenital anomalies/mental retardation syndrome with cardio‐facio‐cutaneous involvement—the CFC syndrome</title><title level="a" type="short" xml:lang="en">CFC Syndrome</title><author xml:id="author-0000" role="corresp"><persName><addName>Dr.</addName><forename type="first">James F.</forename><surname>Reynolds</surname></persName><affiliation>Shodair Children's Hospital, Helena, Montana<address><country key="US"></country></address></affiliation><affiliation>Department of Medical Genetics, Shodair Children's Hospital, P.O. Box 5539, Helena, MT 59604</affiliation></author><author xml:id="author-0001"><persName><forename type="first">Giovanni</forename><surname>Neri</surname></persName><affiliation>Instituto di Genetica Umana, Facolta di Medicina “A Gemelli” UCSC, Rome, Italy<address><country key="IT"></country></address></affiliation></author><author xml:id="author-0002"><persName><forename type="first">Jurgen P.</forename><surname>Herrmann</surname></persName><affiliation>Great Lakes Genetics SC, Wauwatosa, Wisconsin<address><country key="US"></country></address></affiliation></author><author xml:id="author-0003"><persName><forename type="first">Bruce</forename><surname>Blumberg</surname></persName><affiliation>Permanente Medical Group, San Francisco, California<address><country key="US"></country></address></affiliation></author><author xml:id="author-0004"><persName><forename type="first">James G.</forename><surname>Coldwell</surname></persName><affiliation>Children's Medical Center, Tulsa, Oklahoma<address><country key="US"></country></address></affiliation></author><author xml:id="author-0005"><persName><forename type="first">Paul V.</forename><surname>Miles</surname></persName><affiliation>Pediatric Center, Twin Falls, Idaho<address><country key="US"></country></address></affiliation></author><author xml:id="author-0006"><persName><forename type="first">John M.</forename><surname>Opitz</surname></persName><affiliation>Shodair Children's Hospital, Helena, Montana<address><country key="US"></country></address></affiliation></author><author xml:id="author-0007"><persName><forename type="first">John C.</forename><surname>Carey</surname></persName></author><idno type="istex">AB289662631E06AA6D6BC98DBA5A2A6563A0E1AC</idno><idno type="DOI">10.1002/ajmg.1320250303</idno><idno type="unit">AJMG1320250303</idno><idno type="toTypesetVersion">file:AJMG.AJMG1320250303.pdf</idno></analytic><monogr><title level="j" type="main">American Journal of Medical Genetics</title><title level="j" type="alt">AMERICAN JOURNAL OF MEDICAL GENETICS</title><idno type="pISSN">0148-7299</idno><idno type="eISSN">1096-8628</idno><idno type="book-DOI">10.1002/(ISSN)1096-8628</idno><idno type="book-part-DOI">10.1002/ajmg.v25:3</idno><idno type="product">AJMG</idno><imprint><biblScope unit="vol">25</biblScope><biblScope unit="issue">3</biblScope><biblScope unit="page" from="413">413</biblScope><biblScope unit="page" to="427">427</biblScope><biblScope unit="page-count">15</biblScope><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>New York</pubPlace><date type="published" when="1986-11"></date></imprint></monogr></biblStruct></sourceDesc></fileDesc><profileDesc><abstract xml:lang="en" style="main"><head>Abstract</head><p>Eight patients (4 males, 4 females) were affected with a previously undefined multiple congenital anomalies/mental retardation syndrome which was designated the Cardio‐Facio‐Cutaneous (CFC) syndrome and which includes congenital heart defects, characteristic facial appearance, ectodermal abnormalities, and growth failure. Cardiac defects were variable, the most common being pulmonic stenosis and atrial septal defect. Typical facial characteristics were high forehead with bitemporal constriction, hypoplasia of supraorbital ridges, antimongoloid slant of palpebral fissures, depressed bridge of nose, and posteriorly angulated ears with prominent helices. The hair was usually sparse and friable. Skin changes varied from patchy hyperkeratosis to a severe generalized ichthyosis‐like condition. All cases were sporadic in occurrence, there was no family history of consanguinity, and chromosomes were normal. Although presumed to be genetic, the cause of the CFC syndrome remains unknown.</p></abstract><textClass><keywords xml:lang="en"><term xml:id="kwd1">multiple congenital anomalies/mental retardation (MCA/MR) syndrome</term><term xml:id="kwd2">cardio‐facio‐cutaneous (CFC) syndrome</term><term xml:id="kwd3">heart defects</term><term xml:id="kwd4">ichthyosis</term><term xml:id="kwd5">hypotrichosis</term><term xml:id="kwd6">ectodermal abnormalities</term><term xml:id="kwd7">growth failure</term><term xml:id="kwd8">sporadic occurrence</term></keywords><classCode scheme="articleCategory">Article</classCode><classCode scheme="tocHeading1">Articles</classCode></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/AB289662631E06AA6D6BC98DBA5A2A6563A0E1AC/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>Wiley Subscription Services, Inc., A Wiley Company</publisherName><publisherLoc>New York</publisherLoc></publisherInfo><doi registered="yes">10.1002/(ISSN)1096-8628</doi><issn type="print">0148-7299</issn><issn type="electronic">1096-8628</issn><idGroup><id type="product" value="AJMG"></id></idGroup><titleGroup><title type="main" xml:lang="en" sort="AMERICAN JOURNAL OF MEDICAL GENETICS">American Journal of Medical Genetics</title><title type="short">Am. J. Med. Genet.</title></titleGroup></publicationMeta><publicationMeta level="part" position="30"><doi origin="wiley" registered="yes">10.1002/ajmg.v25:3</doi><numberingGroup><numbering type="journalVolume" number="25">25</numbering><numbering type="journalIssue">3</numbering></numberingGroup><coverDate startDate="1986-11">November 1986</coverDate></publicationMeta><publicationMeta level="unit" type="article" position="3" status="forIssue"><doi origin="wiley" registered="yes">10.1002/ajmg.1320250303</doi><idGroup><id type="unit" value="AJMG1320250303"></id></idGroup><countGroup><count type="pageTotal" number="15"></count></countGroup><titleGroup><title type="articleCategory">Article</title><title type="tocHeading1">Articles</title></titleGroup><copyright ownership="publisher">Copyright © 1986 Wiley‐Liss, Inc., A Wiley Company</copyright><eventGroup><event type="manuscriptReceived" date="1985-04-03"></event><event type="manuscriptRevised" date="1985-09-25"></event><event type="firstOnline" date="2005-06-04"></event><event type="publishedOnlineFinalForm" date="2005-06-04"></event><event type="xmlConverted" agent="Converter:JWSART34_TO_WML3G version:2.3.9 mode:FullText" date="2010-06-24"></event><event type="xmlConverted" agent="Converter:WILEY_ML3G_TO_WILEY_ML3GV2 version:3.8.8" date="2014-01-02"></event><event type="xmlConverted" agent="Converter:WML3G_To_WML3G version:4.1.7 mode:FullText,remove_FC" date="2014-10-14"></event></eventGroup><numberingGroup><numbering type="pageFirst">413</numbering><numbering type="pageLast">427</numbering></numberingGroup><correspondenceTo>Department of Medical Genetics, Shodair Children's Hospital, P.O. Box 5539, Helena, MT 59604</correspondenceTo><linkGroup><link type="toTypesetVersion" href="file:AJMG.AJMG1320250303.pdf"></link></linkGroup></publicationMeta><contentMeta><countGroup><count type="figureTotal" number="8"></count><count type="tableTotal" number="4"></count><count type="referenceTotal" number="11"></count></countGroup><titleGroup><title type="main" xml:lang="en">New multiple congenital anomalies/mental retardation syndrome with cardio‐facio‐cutaneous involvement—the CFC syndrome</title><title type="short" xml:lang="en">CFC Syndrome</title></titleGroup><creators><creator xml:id="au1" creatorRole="author" affiliationRef="#af1" corresponding="yes"><personName><honorifics>Dr.</honorifics><givenNames>James F.</givenNames><familyName>Reynolds</familyName></personName></creator><creator xml:id="au2" creatorRole="author" affiliationRef="#af2"><personName><givenNames>Giovanni</givenNames><familyName>Neri</familyName></personName></creator><creator xml:id="au3" creatorRole="author" affiliationRef="#af3"><personName><givenNames>Jurgen P.</givenNames><familyName>Herrmann</familyName></personName></creator><creator xml:id="au4" creatorRole="author" affiliationRef="#af4"><personName><givenNames>Bruce</givenNames><familyName>Blumberg</familyName></personName></creator><creator xml:id="au5" creatorRole="author" affiliationRef="#af5"><personName><givenNames>James G.</givenNames><familyName>Coldwell</familyName></personName></creator><creator xml:id="au6" creatorRole="author" affiliationRef="#af6"><personName><givenNames>Paul V.</givenNames><familyName>Miles</familyName></personName></creator><creator xml:id="au7" creatorRole="author" affiliationRef="#af1"><personName><givenNames>John M.</givenNames><familyName>Opitz</familyName></personName></creator><creator xml:id="au8" creatorRole="author"><personName><givenNames>John C.</givenNames><familyName>Carey</familyName></personName><jobTitle>Editor</jobTitle></creator></creators><affiliationGroup><affiliation xml:id="af1" countryCode="US" type="organization"><unparsedAffiliation>Shodair Children's Hospital, Helena, Montana</unparsedAffiliation></affiliation><affiliation xml:id="af2" countryCode="IT" type="organization"><unparsedAffiliation>Instituto di Genetica Umana, Facolta di Medicina “A Gemelli” UCSC, Rome, Italy</unparsedAffiliation></affiliation><affiliation xml:id="af3" countryCode="US" type="organization"><unparsedAffiliation>Great Lakes Genetics SC, Wauwatosa, Wisconsin</unparsedAffiliation></affiliation><affiliation xml:id="af4" countryCode="US" type="organization"><unparsedAffiliation>Permanente Medical Group, San Francisco, California</unparsedAffiliation></affiliation><affiliation xml:id="af5" countryCode="US" type="organization"><unparsedAffiliation>Children's Medical Center, Tulsa, Oklahoma</unparsedAffiliation></affiliation><affiliation xml:id="af6" countryCode="US" type="organization"><unparsedAffiliation>Pediatric Center, Twin Falls, Idaho</unparsedAffiliation></affiliation></affiliationGroup><keywordGroup xml:lang="en" type="author"><keyword xml:id="kwd1">multiple congenital anomalies/mental retardation (MCA/MR) syndrome</keyword><keyword xml:id="kwd2">cardio‐facio‐cutaneous (CFC) syndrome</keyword><keyword xml:id="kwd3">heart defects</keyword><keyword xml:id="kwd4">ichthyosis</keyword><keyword xml:id="kwd5">hypotrichosis</keyword><keyword xml:id="kwd6">ectodermal abnormalities</keyword><keyword xml:id="kwd7">growth failure</keyword><keyword xml:id="kwd8">sporadic occurrence</keyword></keywordGroup><abstractGroup><abstract type="main" xml:lang="en"><title type="main">Abstract</title><p>Eight patients (4 males, 4 females) were affected with a previously undefined multiple congenital anomalies/mental retardation syndrome which was designated the Cardio‐Facio‐Cutaneous (CFC) syndrome and which includes congenital heart defects, characteristic facial appearance, ectodermal abnormalities, and growth failure. Cardiac defects were variable, the most common being pulmonic stenosis and atrial septal defect. Typical facial characteristics were high forehead with bitemporal constriction, hypoplasia of supraorbital ridges, antimongoloid slant of palpebral fissures, depressed bridge of nose, and posteriorly angulated ears with prominent helices. The hair was usually sparse and friable. Skin changes varied from patchy hyperkeratosis to a severe generalized ichthyosis‐like condition. All cases were sporadic in occurrence, there was no family history of consanguinity, and chromosomes were normal. Although presumed to be genetic, the cause of the CFC syndrome remains unknown.</p></abstract></abstractGroup></contentMeta></header></component></istex:document></istex:metadataXml><mods version="3.6"><titleInfo lang="en"><title>New multiple congenital anomalies/mental retardation syndrome with cardio‐facio‐cutaneous involvement—the CFC syndrome</title></titleInfo><titleInfo type="abbreviated" lang="en"><title>CFC Syndrome</title></titleInfo><titleInfo type="alternative" contentType="CDATA" lang="en"><title>New multiple congenital anomalies/mental retardation syndrome with cardio‐facio‐cutaneous involvement—the CFC syndrome</title></titleInfo><name type="personal"><namePart type="termsOfAddress">Dr.</namePart><namePart type="family">Reynolds</namePart><affiliation>Shodair Children's Hospital, Helena, Montana</affiliation><affiliation>Department of Medical Genetics, Shodair Children's Hospital, P.O. Box 5539, Helena, MT 59604</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Giovanni</namePart><namePart type="family">Neri</namePart><affiliation>Instituto di Genetica Umana, Facolta di Medicina “A Gemelli” UCSC, Rome, Italy</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Jurgen P.</namePart><namePart type="family">Herrmann</namePart><affiliation>Great Lakes Genetics SC, Wauwatosa, Wisconsin</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Bruce</namePart><namePart type="family">Blumberg</namePart><affiliation>Permanente Medical Group, San Francisco, California</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">James G.</namePart><namePart type="family">Coldwell</namePart><affiliation>Children's Medical Center, Tulsa, Oklahoma</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Paul V.</namePart><namePart type="family">Miles</namePart><affiliation>Pediatric Center, Twin Falls, Idaho</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">John M.</namePart><namePart type="family">Opitz</namePart><affiliation>Shodair Children's Hospital, Helena, Montana</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">John C.</namePart><namePart type="family">Carey</namePart><role><roleTerm type="text">author</roleTerm></role><description>Editor</description></name><typeOfResource>text</typeOfResource><genre type="article" displayLabel="article"></genre><originInfo><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><place><placeTerm type="text">New York</placeTerm></place><dateIssued encoding="w3cdtf">1986-11</dateIssued><dateCaptured encoding="w3cdtf">1985-04-03</dateCaptured><copyrightDate encoding="w3cdtf">1986</copyrightDate></originInfo><language><languageTerm type="code" authority="rfc3066">en</languageTerm><languageTerm type="code" authority="iso639-2b">eng</languageTerm></language><physicalDescription><internetMediaType>text/html</internetMediaType><extent unit="figures">8</extent><extent unit="tables">4</extent><extent unit="references">11</extent></physicalDescription><abstract lang="en">Eight patients (4 males, 4 females) were affected with a previously undefined multiple congenital anomalies/mental retardation syndrome which was designated the Cardio‐Facio‐Cutaneous (CFC) syndrome and which includes congenital heart defects, characteristic facial appearance, ectodermal abnormalities, and growth failure. Cardiac defects were variable, the most common being pulmonic stenosis and atrial septal defect. Typical facial characteristics were high forehead with bitemporal constriction, hypoplasia of supraorbital ridges, antimongoloid slant of palpebral fissures, depressed bridge of nose, and posteriorly angulated ears with prominent helices. The hair was usually sparse and friable. Skin changes varied from patchy hyperkeratosis to a severe generalized ichthyosis‐like condition. All cases were sporadic in occurrence, there was no family history of consanguinity, and chromosomes were normal. Although presumed to be genetic, the cause of the CFC syndrome remains unknown.</abstract><subject lang="en"><genre>keywords</genre><topic>multiple congenital anomalies/mental retardation (MCA/MR) syndrome</topic><topic>cardio‐facio‐cutaneous (CFC) syndrome</topic><topic>heart defects</topic><topic>ichthyosis</topic><topic>hypotrichosis</topic><topic>ectodermal abnormalities</topic><topic>growth failure</topic><topic>sporadic occurrence</topic></subject><relatedItem type="host"><titleInfo><title>American Journal of Medical Genetics</title></titleInfo><titleInfo type="abbreviated"><title>Am. J. Med. Genet.</title></titleInfo><genre type="journal">journal</genre><subject><genre>article-category</genre><topic>Article</topic></subject><identifier type="ISSN">0148-7299</identifier><identifier type="eISSN">1096-8628</identifier><identifier type="DOI">10.1002/(ISSN)1096-8628</identifier><identifier type="PublisherID">AJMG</identifier><part><date>1986</date><detail type="volume"><caption>vol.</caption><number>25</number></detail><detail type="issue"><caption>no.</caption><number>3</number></detail><extent unit="pages"><start>413</start><end>427</end><total>15</total></extent></part></relatedItem><identifier type="istex">AB289662631E06AA6D6BC98DBA5A2A6563A0E1AC</identifier><identifier type="DOI">10.1002/ajmg.1320250303</identifier><identifier type="ArticleID">AJMG1320250303</identifier><accessCondition type="use and reproduction" contentType="copyright">Copyright © 1986 Wiley‐Liss, Inc., A Wiley Company</accessCondition><recordInfo><recordContentSource>WILEY</recordContentSource><recordOrigin>Wiley Subscription Services, Inc., A Wiley Company</recordOrigin></recordInfo></mods></metadata><serie></serie></istex></record>Pour manipuler ce document sous Unix (Dilib)
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