Congenital hypertrichosis, osteochondrodysplasia, and cardiomegaly: Further delineation of a new genetic syndrome
Identifieur interne : 002532 ( Istex/Corpus ); précédent : 002531; suivant : 002533Congenital hypertrichosis, osteochondrodysplasia, and cardiomegaly: Further delineation of a new genetic syndrome
Auteurs : D. García-Cruz ; J. Sánchez-Corona ; Z. Nazará ; M. O. García-Cruz ; L. E. Figuera ; V. Casta Eda ; J. M. CantúSource :
- American Journal of Medical Genetics [ 0148-7299 ] ; 1997-03-17.
Abstract
The hypertrichosis and osteochondrodysplasia syndrome is a rare entity with clinical findings including macrosomia at birth cardiomegaly. Autosomal recessive inheritance is presumed based on the report of two affected sibs born to healthy parents. Here we report on four new patients with their follow‐up data, as well as on one of the four cases from the original report. Comparison of all eight cases indicates that they share 50% of clinical and radiological changes. This report contributes to the further delineation of this newly recognized syndrome. Am. J. Med. Genet. 69:138–151, 1997. © 1997 Wiley‐Liss, Inc.
Url:
DOI: 10.1002/(SICI)1096-8628(19970317)69:2<138::AID-AJMG5>3.0.CO;2-L
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ISTEX:51314DFE23824A7F767CE7D80E9D6010DC3BCBAALe document en format XML
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García‐Cruz</name><affiliations><json:string>División de Genética, Centro de Investigacíon Biomédica de Occidente, Jalisco, Mexico</json:string><json:string>División de Genética, CIBO‐IMSS, Ap. Postal 1‐3838, Guadalajara, Jal., Mexico</json:string></affiliations></json:item><json:item><name>J. Sánchez‐Corona</name><affiliations><json:string>División de Medicina Molecular, Centro de Investigación Biomédica de Occidente, Jalisco, Mexico</json:string></affiliations></json:item><json:item><name>Z. Nazará</name><affiliations><json:string>Servicio de Radiología, Hospital de Especialidades, Centro Médico Nacional de Occidente, Jalisco, Mexico</json:string></affiliations></json:item><json:item><name>M. O. García‐Cruz</name><affiliations><json:string>Servicio de Labio y Paladar Hendido, HGR No. 46, IMSS, Guadalajara, Jalisco, Mexico</json:string></affiliations></json:item><json:item><name>L. E. Figuera</name><affiliations><json:string>División de Genética, Centro de Investigacíon Biomédica de Occidente, Jalisco, Mexico</json:string><json:string>División de Medicina Molecular, Centro de Investigación Biomédica de Occidente, Jalisco, Mexico</json:string></affiliations></json:item><json:item><name>V. Castañeda</name><affiliations><json:string>Servicio de Cardiología, Hospital de Especialidades, Centro Médico Nacional de Occidente, Jalisco, Mexico</json:string></affiliations></json:item><json:item><name>J. M. 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Postal 1‐3838, Guadalajara, Jal., Mexico</correspondenceTo><linkGroup><link type="toTypesetVersion" href="file:AJMG.AJMG5.pdf"></link></linkGroup></publicationMeta><contentMeta><countGroup><count type="figureTotal" number="11"></count><count type="tableTotal" number="3"></count><count type="referenceTotal" number="11"></count></countGroup><titleGroup><title type="main" xml:lang="en">Congenital hypertrichosis, osteochondrodysplasia, and cardiomegaly: Further delineation of a new genetic syndrome</title></titleGroup><creators><creator xml:id="au1" creatorRole="author" affiliationRef="#af1" corresponding="yes"><personName><givenNames>D.</givenNames><familyName>García‐Cruz</familyName></personName></creator><creator xml:id="au2" creatorRole="author" affiliationRef="#af2"><personName><givenNames>J.</givenNames><familyName>Sánchez‐Corona</familyName></personName></creator><creator xml:id="au3" creatorRole="author" affiliationRef="#af3"><personName><givenNames>Z.</givenNames><familyName>Nazará</familyName></personName></creator><creator xml:id="au4" creatorRole="author" affiliationRef="#af4"><personName><givenNames>M. O.</givenNames><familyName>García‐Cruz</familyName></personName></creator><creator xml:id="au5" creatorRole="author" affiliationRef="#af1 #af2"><personName><givenNames>L. E.</givenNames><familyName>Figuera</familyName></personName></creator><creator xml:id="au6" creatorRole="author" affiliationRef="#af5"><personName><givenNames>V.</givenNames><familyName>Castañeda</familyName></personName></creator><creator xml:id="au7" creatorRole="author" affiliationRef="#af1"><personName><givenNames>J. M.</givenNames><familyName>Cantú</familyName></personName></creator></creators><affiliationGroup><affiliation xml:id="af1" countryCode="MX" type="organization"><unparsedAffiliation>División de Genética, Centro de Investigacíon Biomédica de Occidente, Jalisco, Mexico</unparsedAffiliation></affiliation><affiliation xml:id="af2" countryCode="MX" type="organization"><unparsedAffiliation>División de Medicina Molecular, Centro de Investigación Biomédica de Occidente, Jalisco, Mexico</unparsedAffiliation></affiliation><affiliation xml:id="af3" countryCode="MX" type="organization"><unparsedAffiliation>Servicio de Radiología, Hospital de Especialidades, Centro Médico Nacional de Occidente, Jalisco, Mexico</unparsedAffiliation></affiliation><affiliation xml:id="af4" countryCode="MX" type="organization"><unparsedAffiliation>Servicio de Labio y Paladar Hendido, HGR No. 46, IMSS, Guadalajara, Jalisco, Mexico</unparsedAffiliation></affiliation><affiliation xml:id="af5" countryCode="MX" type="organization"><unparsedAffiliation>Servicio de Cardiología, Hospital de Especialidades, Centro Médico Nacional de Occidente, Jalisco, Mexico</unparsedAffiliation></affiliation></affiliationGroup><keywordGroup xml:lang="en" type="author"><keyword xml:id="kwd1">autosomal recessive</keyword><keyword xml:id="kwd2">cardiomegaly</keyword><keyword xml:id="kwd3">congenital</keyword><keyword xml:id="kwd4">hypertrichosis</keyword><keyword xml:id="kwd5">macrosomia</keyword><keyword xml:id="kwd6">osteochondrodysplasia</keyword><keyword xml:id="kwd7">pericarditis</keyword></keywordGroup><abstractGroup><abstract type="main" xml:lang="en"><title type="main">Abstract</title><p>The hypertrichosis and osteochondrodysplasia syndrome is a rare entity with clinical findings including macrosomia at birth cardiomegaly. Autosomal recessive inheritance is presumed based on the report of two affected sibs born to healthy parents. Here we report on four new patients with their follow‐up data, as well as on one of the four cases from the original report. Comparison of all eight cases indicates that they share 50% of clinical and radiological changes. This report contributes to the further delineation of this newly recognized syndrome. Am. J. Med. Genet. 69:138–151, 1997. © 1997 Wiley‐Liss, Inc.</p></abstract></abstractGroup></contentMeta></header></component></istex:document></istex:metadataXml><mods version="3.6"><titleInfo lang="en"><title>Congenital hypertrichosis, osteochondrodysplasia, and cardiomegaly: Further delineation of a new genetic syndrome</title></titleInfo><titleInfo type="alternative" contentType="CDATA" lang="en"><title>Congenital hypertrichosis, osteochondrodysplasia, and cardiomegaly: Further delineation of a new genetic syndrome</title></titleInfo><name type="personal"><namePart type="given">D.</namePart><namePart type="family">García‐Cruz</namePart><affiliation>División de Genética, Centro de Investigacíon Biomédica de Occidente, Jalisco, Mexico</affiliation><affiliation>División de Genética, CIBO‐IMSS, Ap. Postal 1‐3838, Guadalajara, Jal., Mexico</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">J.</namePart><namePart type="family">Sánchez‐Corona</namePart><affiliation>División de Medicina Molecular, Centro de Investigación Biomédica de Occidente, Jalisco, Mexico</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Z.</namePart><namePart type="family">Nazará</namePart><affiliation>Servicio de Radiología, Hospital de Especialidades, Centro Médico Nacional de Occidente, Jalisco, Mexico</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">M. O.</namePart><namePart type="family">García‐Cruz</namePart><affiliation>Servicio de Labio y Paladar Hendido, HGR No. 46, IMSS, Guadalajara, Jalisco, Mexico</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">L. E.</namePart><namePart type="family">Figuera</namePart><affiliation>División de Genética, Centro de Investigacíon Biomédica de Occidente, Jalisco, Mexico</affiliation><affiliation>División de Medicina Molecular, Centro de Investigación Biomédica de Occidente, Jalisco, Mexico</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">V.</namePart><namePart type="family">Castañeda</namePart><affiliation>Servicio de Cardiología, Hospital de Especialidades, Centro Médico Nacional de Occidente, Jalisco, Mexico</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">J. M.</namePart><namePart type="family">Cantú</namePart><affiliation>División de Genética, Centro de Investigacíon Biomédica de Occidente, Jalisco, Mexico</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">1997-03-17</dateIssued><dateCaptured encoding="w3cdtf">1995-12-20</dateCaptured><dateValid encoding="w3cdtf">1996-06-11</dateValid><copyrightDate encoding="w3cdtf">1997</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">11</extent><extent unit="tables">3</extent><extent unit="references">11</extent></physicalDescription><abstract lang="en">The hypertrichosis and osteochondrodysplasia syndrome is a rare entity with clinical findings including macrosomia at birth cardiomegaly. Autosomal recessive inheritance is presumed based on the report of two affected sibs born to healthy parents. Here we report on four new patients with their follow‐up data, as well as on one of the four cases from the original report. Comparison of all eight cases indicates that they share 50% of clinical and radiological changes. This report contributes to the further delineation of this newly recognized syndrome. Am. J. Med. Genet. 69:138–151, 1997. © 1997 Wiley‐Liss, Inc.</abstract><subject lang="en"><genre>keywords</genre><topic>autosomal recessive</topic><topic>cardiomegaly</topic><topic>congenital</topic><topic>hypertrichosis</topic><topic>macrosomia</topic><topic>osteochondrodysplasia</topic><topic>pericarditis</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><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>1997</date><detail type="volume"><caption>vol.</caption><number>69</number></detail><detail type="issue"><caption>no.</caption><number>2</number></detail><extent unit="pages"><start>138</start><end>151</end><total>14</total></extent></part></relatedItem><identifier type="istex">51314DFE23824A7F767CE7D80E9D6010DC3BCBAA</identifier><identifier type="DOI">10.1002/(SICI)1096-8628(19970317)69:2<138::AID-AJMG5>3.0.CO;2-L</identifier><identifier type="ArticleID">AJMG5</identifier><accessCondition type="use and reproduction" contentType="copyright">Copyright © 1997 Wiley‐Liss, Inc.</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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