Costello syndrome: Further clinical delineation, natural history, genetic definition, and nosology
Identifieur interne : 005A78 ( Istex/Corpus ); précédent : 005A77; suivant : 005A79Costello syndrome: Further clinical delineation, natural history, genetic definition, and nosology
Auteurs : Giuseppe Zampino ; Pierpaolo Mastroiacovo ; Roberta Ricci ; Marcella Zollino ; Giuseppe Segni ; Maria Enrica Martini-Neri ; Giovanni NeriSource :
- American Journal of Medical Genetics [ 0148-7299 ] ; 1993-08-15.
Abstract
In 1977 Costello described two unrelated children with poor postnatal growth, mental retardation, curly hair, coarse face of similar appearance, and nasal papillomata, suggesting the existence of a previously undescribed syndrome of uncertain familial nature [Costello, Aust Paediatr J 13: 114–118, 1977]. The existence of this syndrome as a separate entity was substantiated several years later by two additional reports by Der Kaloustian et al. [Am J Med Genet 43:678–685, 1991] and Martin and Jones [Am J Med Genet 41:346–349, 1991]. More recently Borochowitz et al. [Am J Med Genet 43:678–685,1992] described a new “multiple congenital anomalies/mental retardation syndrome with facio‐cutaneous‐skeletal involvement.” Whether this condition should be considered separately from the Costello syndrome is currently a matter of debate. We present three cases, two of whom are sibs, who support the identity of the two syndromes. Our aim is to better redefine the diagnostic criteria, describe the natural history, and confirm the genetic cause of the Costello syndrome, whose pattern of inheritance is most likely autosomal recessive. © 1993 Wiley‐Liss, Inc.
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DOI: 10.1002/ajmg.1320470210
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ISTEX:C116CA43E82CBC5135711DD6B4ADD5BBC502E73CLe document en format XML
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Giacomo, USL RM1, Rome, Italy</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>Istituto di Genetica Medica, Facoltá di Medicina “A. 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The existence of this syndrome as a separate entity was substantiated several years later by two additional reports by Der Kaloustian et al. [Am J Med Genet 43:678–685, 1991] and Martin and Jones [Am J Med Genet 41:346–349, 1991]. More recently Borochowitz et al. [Am J Med Genet 43:678–685,1992] described a new “multiple congenital anomalies/mental retardation syndrome with facio‐cutaneous‐skeletal involvement.” Whether this condition should be considered separately from the Costello syndrome is currently a matter of debate. We present three cases, two of whom are sibs, who support the identity of the two syndromes. Our aim is to better redefine the diagnostic criteria, describe the natural history, and confirm the genetic cause of the Costello syndrome, whose pattern of inheritance is most likely autosomal recessive. © 1993 Wiley‐Liss, Inc.</div></front></TEI><istex><corpusName>wiley</corpusName><keywords><teeft><json:string>costello</json:string><json:string>costello syndrome</json:string><json:string>genet</json:string><json:string>syndrome</json:string><json:string>berberich</json:string><json:string>hypertrophic</json:string><json:string>kaloustian</json:string><json:string>borochowitz</json:string><json:string>papilloma</json:string><json:string>palmar</json:string><json:string>phenotype</json:string><json:string>neri</json:string><json:string>thick lips</json:string><json:string>dystrophic</json:string><json:string>curly hair</json:string><json:string>posteriorly angulated ears</json:string><json:string>relative macrocephaly</json:string><json:string>coarse face</json:string><json:string>dystrophic nails</json:string><json:string>crease</json:string><json:string>systolic murmur</json:string><json:string>nasal papillomata</json:string><json:string>natural history</json:string><json:string>mental retardation</json:string><json:string>white lines</json:string><json:string>sparse hair</json:string><json:string>hypertrophic cardiomyopathy</json:string><json:string>clinical findings</json:string><json:string>nasal bridge</json:string><json:string>general view</json:string><json:string>unrelated children</json:string><json:string>clinical examination</json:string><json:string>palmar creases</json:string><json:string>poor weight gain</json:string><json:string>mental retardation syndrome</json:string><json:string>sialic acid</json:string><json:string>achilles tendon</json:string><json:string>genet martin</json:string><json:string>diagnostic criteria</json:string><json:string>broad forehead</json:string><json:string>thick lobe</json:string><json:string>ulnar deviation</json:string><json:string>redundant skin</json:string><json:string>dorsal aspect</json:string><json:string>noonan phenotype</json:string><json:string>first phase</json:string><json:string>second phase</json:string><json:string>weight gain</json:string><json:string>aust paediatr</json:string><json:string>clinical course</json:string><json:string>redundant skin folds</json:string><json:string>psychomotor delay</json:string><json:string>prenatal period</json:string><json:string>dystrophic changes</json:string><json:string>differential diagnosis</json:string><json:string>facial traits</json:string><json:string>separate entity</json:string><json:string>plantar hyperkeratosis</json:string><json:string>retardation</json:string><json:string>nasal</json:string></teeft></keywords><author><json:item><name>Giuseppe Zampino</name><affiliations><json:string>Istituto di Pediatria, Facoltá di Medicina “A. 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The existence of this syndrome as a separate entity was substantiated several years later by two additional reports by Der Kaloustian et al. [Am J Med Genet 43:678–685, 1991] and Martin and Jones [Am J Med Genet 41:346–349, 1991]. More recently Borochowitz et al. [Am J Med Genet 43:678–685,1992] described a new “multiple congenital anomalies/mental retardation syndrome with facio‐cutaneous‐skeletal involvement.” Whether this condition should be considered separately from the Costello syndrome is currently a matter of debate. We present three cases, two of whom are sibs, who support the identity of the two syndromes. Our aim is to better redefine the diagnostic criteria, describe the natural history, and confirm the genetic cause of the Costello syndrome, whose pattern of inheritance is most likely autosomal recessive. © 1993 Wiley‐Liss, Inc.</abstract><qualityIndicators><score>5.48</score><pdfVersion>1.3</pdfVersion><pdfPageSize>576 x 774 pts</pdfPageSize><refBibsNative>true</refBibsNative><abstractCharCount>1159</abstractCharCount><pdfWordCount>3428</pdfWordCount><pdfCharCount>22408</pdfCharCount><pdfPageCount>8</pdfPageCount><abstractWordCount>171</abstractWordCount></qualityIndicators><title>Costello syndrome: Further clinical delineation, natural history, genetic definition, and nosology</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>47</volume><issue>2</issue><pages><first>176</first><last>183</last><total>8</total></pages><genre><json:string>journal</json:string></genre><subject><json:item><value>Article</value></json:item></subject></host><publicationDate>1993</publicationDate><copyrightDate>1993</copyrightDate><doi><json:string>10.1002/ajmg.1320470210</json:string></doi><id>C116CA43E82CBC5135711DD6B4ADD5BBC502E73C</id><score>1</score><fulltext><json:item><extension>pdf</extension><original>true</original><mimetype>application/pdf</mimetype><uri>https://api.istex.fr/document/C116CA43E82CBC5135711DD6B4ADD5BBC502E73C/fulltext/pdf</uri></json:item><json:item><extension>zip</extension><original>false</original><mimetype>application/zip</mimetype><uri>https://api.istex.fr/document/C116CA43E82CBC5135711DD6B4ADD5BBC502E73C/fulltext/zip</uri></json:item><istex:fulltextTEI uri="https://api.istex.fr/document/C116CA43E82CBC5135711DD6B4ADD5BBC502E73C/fulltext/tei"><teiHeader><fileDesc><titleStmt><title level="a" type="main" xml:lang="en">Costello syndrome: Further clinical delineation, natural history, genetic definition, and nosology</title></titleStmt><publicationStmt><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>New York</pubPlace><availability><licence>Copyright © 1993 Wiley‐Liss, Inc., A Wiley Company</licence></availability><date type="published" when="1993-08-15"></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">Costello syndrome: Further clinical delineation, natural history, genetic definition, and nosology</title><title level="a" type="short" xml:lang="en">Costello Syndrome</title><author xml:id="author-0000" role="corresp"><persName><forename type="first">Giuseppe</forename><surname>Zampino</surname></persName><affiliation>Istituto di Pediatria, Facoltá di Medicina “A. 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Gemelli,” Universitá Cattolica, Rome, Italy<address><country key="IT"></country></address></affiliation></author><idno type="istex">C116CA43E82CBC5135711DD6B4ADD5BBC502E73C</idno><idno type="DOI">10.1002/ajmg.1320470210</idno><idno type="unit">AJMG1320470210</idno><idno type="toTypesetVersion">file:AJMG.AJMG1320470210.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.v47:2</idno><idno type="product">AJMG</idno><imprint><biblScope unit="vol">47</biblScope><biblScope unit="issue">2</biblScope><biblScope unit="page" from="176">176</biblScope><biblScope unit="page" to="183">183</biblScope><biblScope unit="page-count">8</biblScope><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>New York</pubPlace><date type="published" when="1993-08-15"></date></imprint></monogr></biblStruct></sourceDesc></fileDesc><profileDesc><abstract xml:lang="de" style="main"><head>Abstract</head><p>In 1977 Costello described two unrelated children with poor postnatal growth, mental retardation, curly hair, coarse face of similar appearance, and nasal papillomata, suggesting the existence of a previously undescribed syndrome of uncertain familial nature [Costello, Aust Paediatr J 13: 114–118, 1977]. The existence of this syndrome as a separate entity was substantiated several years later by two additional reports by Der Kaloustian et al. [Am J Med Genet 43:678–685, 1991] and Martin and Jones [Am J Med Genet 41:346–349, 1991]. More recently Borochowitz et al. [Am J Med Genet 43:678–685,1992] described a new “multiple congenital anomalies/mental retardation syndrome with facio‐cutaneous‐skeletal involvement.” Whether this condition should be considered separately from the Costello syndrome is currently a matter of debate. We present three cases, two of whom are sibs, who support the identity of the two syndromes.</p><p>Our aim is to better redefine the diagnostic criteria, describe the natural history, and confirm the genetic cause of the Costello syndrome, whose pattern of inheritance is most likely autosomal recessive. © 1993 Wiley‐Liss, Inc.</p></abstract><textClass><keywords xml:lang="en"><term xml:id="kwd1">Costello syndrome</term><term xml:id="kwd2">facio‐cutaneous‐skeletal syndrome</term><term xml:id="kwd3">growth failure</term><term xml:id="kwd4">storage disorder</term><term xml:id="kwd5">hypertrophic cardiomyopathy</term><term xml:id="kwd6">neoplasia</term><term xml:id="kwd7">autosomal recessive inheritance</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/C116CA43E82CBC5135711DD6B4ADD5BBC502E73C/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. 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Cuore, Largo A. Gemelli 8, 00168 Rome, Italy</correspondenceTo><linkGroup><link type="toTypesetVersion" href="file:AJMG.AJMG1320470210.pdf"></link></linkGroup></publicationMeta><contentMeta><countGroup><count type="figureTotal" number="9"></count><count type="tableTotal" number="1"></count><count type="referenceTotal" number="18"></count></countGroup><titleGroup><title type="main" xml:lang="en">Costello syndrome: Further clinical delineation, natural history, genetic definition, and nosology</title><title type="short" xml:lang="en">Costello Syndrome</title></titleGroup><creators><creator xml:id="au1" creatorRole="author" affiliationRef="#af1" corresponding="yes"><personName><givenNames>Giuseppe</givenNames><familyName>Zampino</familyName></personName></creator><creator xml:id="au2" creatorRole="author" affiliationRef="#af1"><personName><givenNames>Pierpaolo</givenNames><familyName>Mastroiacovo</familyName></personName></creator><creator xml:id="au3" creatorRole="author" affiliationRef="#af1"><personName><givenNames>Roberta</givenNames><familyName>Ricci</familyName></personName></creator><creator xml:id="au4" creatorRole="author" affiliationRef="#af2"><personName><givenNames>Marcella</givenNames><familyName>Zollino</familyName></personName></creator><creator xml:id="au5" creatorRole="author" affiliationRef="#af1"><personName><givenNames>Giuseppe</givenNames><familyName>Segni</familyName></personName></creator><creator xml:id="au6" creatorRole="author" affiliationRef="#af3"><personName><givenNames>Maria Enrica</givenNames><familyName>Martini‐Neri</familyName></personName></creator><creator xml:id="au7" creatorRole="author" affiliationRef="#af2"><personName><givenNames>Giovanni</givenNames><familyName>Neri</familyName></personName></creator></creators><affiliationGroup><affiliation xml:id="af1" countryCode="IT" type="organization"><unparsedAffiliation>Istituto di Pediatria, Facoltá di Medicina “A. Gemelli,” Universitá Cattolica, Rome, Italy</unparsedAffiliation></affiliation><affiliation xml:id="af2" countryCode="IT" type="organization"><unparsedAffiliation>Istituto di Genetica Medica, Facoltá di Medicina “A. Gemelli,” Universitá Cattolica, Rome, Italy</unparsedAffiliation></affiliation><affiliation xml:id="af3" countryCode="IT" type="organization"><unparsedAffiliation>Servizio di Anatomia Patologica, Ospedale S. Giacomo, USL RM1, Rome, Italy</unparsedAffiliation></affiliation></affiliationGroup><keywordGroup xml:lang="en" type="author"><keyword xml:id="kwd1">Costello syndrome</keyword><keyword xml:id="kwd2">facio‐cutaneous‐skeletal syndrome</keyword><keyword xml:id="kwd3">growth failure</keyword><keyword xml:id="kwd4">storage disorder</keyword><keyword xml:id="kwd5">hypertrophic cardiomyopathy</keyword><keyword xml:id="kwd6">neoplasia</keyword><keyword xml:id="kwd7">autosomal recessive inheritance</keyword></keywordGroup><abstractGroup><abstract type="main" xml:lang="de"><title type="main">Abstract</title><p>In 1977 Costello described two unrelated children with poor postnatal growth, mental retardation, curly hair, coarse face of similar appearance, and nasal papillomata, suggesting the existence of a previously undescribed syndrome of uncertain familial nature [Costello, Aust Paediatr J 13: 114–118, 1977]. The existence of this syndrome as a separate entity was substantiated several years later by two additional reports by Der Kaloustian et al. [Am J Med Genet 43:678–685, 1991] and Martin and Jones [Am J Med Genet 41:346–349, 1991]. More recently Borochowitz et al. [Am J Med Genet 43:678–685,1992] described a new “multiple congenital anomalies/mental retardation syndrome with facio‐cutaneous‐skeletal involvement.” Whether this condition should be considered separately from the Costello syndrome is currently a matter of debate. We present three cases, two of whom are sibs, who support the identity of the two syndromes.</p><p>Our aim is to better redefine the diagnostic criteria, describe the natural history, and confirm the genetic cause of the Costello syndrome, whose pattern of inheritance is most likely autosomal recessive. © 1993 Wiley‐Liss, Inc.</p></abstract></abstractGroup></contentMeta></header></component></istex:document></istex:metadataXml><mods version="3.6"><titleInfo lang="en"><title>Costello syndrome: Further clinical delineation, natural history, genetic definition, and nosology</title></titleInfo><titleInfo type="abbreviated" lang="en"><title>Costello Syndrome</title></titleInfo><titleInfo type="alternative" contentType="CDATA" lang="en"><title>Costello syndrome: Further clinical delineation, natural history, genetic definition, and nosology</title></titleInfo><name type="personal"><namePart type="given">Giuseppe</namePart><namePart type="family">Zampino</namePart><affiliation>Istituto di Pediatria, Facoltá di Medicina “A. Gemelli,” Universitá Cattolica, Rome, Italy</affiliation><affiliation>Istituto di Pediatria, Universitá Cattolica S. Cuore, Largo A. Gemelli 8, 00168 Rome, Italy</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Pierpaolo</namePart><namePart type="family">Mastroiacovo</namePart><affiliation>Istituto di Pediatria, Facoltá di Medicina “A. Gemelli,” Universitá Cattolica, Rome, Italy</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Roberta</namePart><namePart type="family">Ricci</namePart><affiliation>Istituto di Pediatria, Facoltá di Medicina “A. Gemelli,” Universitá Cattolica, Rome, Italy</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Marcella</namePart><namePart type="family">Zollino</namePart><affiliation>Istituto di Genetica Medica, Facoltá di Medicina “A. Gemelli,” Universitá Cattolica, Rome, Italy</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Giuseppe</namePart><namePart type="family">Segni</namePart><affiliation>Istituto di Pediatria, Facoltá di Medicina “A. Gemelli,” Universitá Cattolica, Rome, Italy</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Maria Enrica</namePart><namePart type="family">Martini‐Neri</namePart><affiliation>Servizio di Anatomia Patologica, Ospedale S. Giacomo, USL RM1, Rome, Italy</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Giovanni</namePart><namePart type="family">Neri</namePart><affiliation>Istituto di Genetica Medica, Facoltá di Medicina “A. Gemelli,” Universitá Cattolica, Rome, Italy</affiliation><role><roleTerm type="text">author</roleTerm></role></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">1993-08-15</dateIssued><dateCaptured encoding="w3cdtf">1993-01-25</dateCaptured><copyrightDate encoding="w3cdtf">1993</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">9</extent><extent unit="tables">1</extent><extent unit="references">18</extent></physicalDescription><abstract lang="de">In 1977 Costello described two unrelated children with poor postnatal growth, mental retardation, curly hair, coarse face of similar appearance, and nasal papillomata, suggesting the existence of a previously undescribed syndrome of uncertain familial nature [Costello, Aust Paediatr J 13: 114–118, 1977]. The existence of this syndrome as a separate entity was substantiated several years later by two additional reports by Der Kaloustian et al. [Am J Med Genet 43:678–685, 1991] and Martin and Jones [Am J Med Genet 41:346–349, 1991]. More recently Borochowitz et al. [Am J Med Genet 43:678–685,1992] described a new “multiple congenital anomalies/mental retardation syndrome with facio‐cutaneous‐skeletal involvement.” Whether this condition should be considered separately from the Costello syndrome is currently a matter of debate. We present three cases, two of whom are sibs, who support the identity of the two syndromes. Our aim is to better redefine the diagnostic criteria, describe the natural history, and confirm the genetic cause of the Costello syndrome, whose pattern of inheritance is most likely autosomal recessive. © 1993 Wiley‐Liss, Inc.</abstract><subject lang="en"><genre>keywords</genre><topic>Costello syndrome</topic><topic>facio‐cutaneous‐skeletal syndrome</topic><topic>growth failure</topic><topic>storage disorder</topic><topic>hypertrophic cardiomyopathy</topic><topic>neoplasia</topic><topic>autosomal recessive inheritance</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>1993</date><detail type="volume"><caption>vol.</caption><number>47</number></detail><detail type="issue"><caption>no.</caption><number>2</number></detail><extent unit="pages"><start>176</start><end>183</end><total>8</total></extent></part></relatedItem><identifier type="istex">C116CA43E82CBC5135711DD6B4ADD5BBC502E73C</identifier><identifier type="DOI">10.1002/ajmg.1320470210</identifier><identifier type="ArticleID">AJMG1320470210</identifier><accessCondition type="use and reproduction" contentType="copyright">Copyright © 1993 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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