Visceral anomalies in the Apert syndrome
Identifieur interne : 000F92 ( Istex/Corpus ); précédent : 000F91; suivant : 000F93Visceral anomalies in the Apert syndrome
Auteurs : Kishor M. Cohen Jr. ; Sven KreiborgSource :
- American Journal of Medical Genetics [ 0148-7299 ] ; 1993-03-15.
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- KwdEn :
Abstract
We report on visceral anomalies found in 136 patients with Apert syndrome. Autopsies were only performed on 12 of these cases. Thus, the percentage of anomalies found in our patients should be considered a minimum estimate because of the possibility of clinically silent visceral anomalies, minor internal anomalies, and anatomic variations. Cardiovascular and genitourinary anomalies were found most commonly, occurring in 10% and 9.6%, respectively. As expected, complex and multiple cardiac anomalies were frequently associated with early death. Among genitourinary anomalies, hydronephrosis (3%) and cryptorchidism (4.5%, n =; 66 males) occurred most commonly. In contrast, anomalies of the respiratory system (1.5%) and gastrointestinal anomalies (1.5%) occurred with lower frequency. The finding of a solid cartilaginous trachea is particularly important because no case was diagnosed during life but rather, only at autopsy. Because cardiovascular and genitourinary anomalies occur with significant frequency, they should be considered in the workup of all Apert newborn infants. We also recommend MRI study of the trachea in any infant with signs and symptoms of lower respiratory compromise. © 1993 Wiley‐Liss, Inc.
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DOI: 10.1002/ajmg.1320450618
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Cohen Jr.</name><affiliation><mods:affiliation>Department of Oral Biology, Faculty of Dentistry, and Department of Pediatrics, Faculty of Medicine, Dalhousie University, Halifax, Nova Scotia, Canada</mods:affiliation></affiliation><affiliation><mods:affiliation>Dalhousie University, Halifax, Nova Scotia, Canada B3H 3J5</mods:affiliation></affiliation></author><author><name sortKey="Kreiborg, Sven" sort="Kreiborg, Sven" uniqKey="Kreiborg S" first="Sven" last="Kreiborg">Sven Kreiborg</name><affiliation><mods:affiliation>Department of Pediatric Dentistry, School of Dentistry, Faculty of Health Sciences, University of Copenhagen, Copenhagen, Denmark</mods:affiliation></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">ISTEX</idno><idno type="RBID">ISTEX:7E0713E3EF826EC656F26E8158504042344D7CD3</idno><date when="1993" year="1993">1993</date><idno type="doi">10.1002/ajmg.1320450618</idno><idno type="url">https://api-v5.istex.fr/document/7E0713E3EF826EC656F26E8158504042344D7CD3/fulltext/pdf</idno><idno type="wicri:Area/Istex/Corpus">000F92</idno><idno type="wicri:explorRef" wicri:stream="Istex" wicri:step="Corpus" wicri:corpus="ISTEX">000F92</idno></publicationStmt><sourceDesc><biblStruct><analytic><title level="a" type="main" xml:lang="en">Visceral anomalies in the Apert syndrome</title><author><name sortKey="Cohen Jr, Kishor M" sort="Cohen Jr, Kishor M" uniqKey="Cohen Jr K" first="Kishor M." last="Cohen Jr.">Kishor M. Cohen Jr.</name><affiliation><mods:affiliation>Department of Oral Biology, Faculty of Dentistry, and Department of Pediatrics, Faculty of Medicine, Dalhousie University, Halifax, Nova Scotia, Canada</mods:affiliation></affiliation><affiliation><mods:affiliation>Dalhousie University, Halifax, Nova Scotia, Canada B3H 3J5</mods:affiliation></affiliation></author><author><name sortKey="Kreiborg, Sven" sort="Kreiborg, Sven" uniqKey="Kreiborg S" first="Sven" last="Kreiborg">Sven Kreiborg</name><affiliation><mods:affiliation>Department of Pediatric Dentistry, School of Dentistry, Faculty of Health Sciences, University of Copenhagen, Copenhagen, Denmark</mods:affiliation></affiliation></author></analytic><monogr></monogr><series><title level="j">American Journal of Medical Genetics</title><title level="j" type="abbrev">Am. J. Med. Genet.</title><idno type="ISSN">0148-7299</idno><idno type="eISSN">1096-8628</idno><imprint><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>New York</pubPlace><date type="published" when="1993-03-15">1993-03-15</date><biblScope unit="volume">45</biblScope><biblScope unit="issue">6</biblScope><biblScope unit="page" from="758">758</biblScope><biblScope unit="page" to="760">760</biblScope></imprint><idno type="ISSN">0148-7299</idno></series><idno type="istex">7E0713E3EF826EC656F26E8158504042344D7CD3</idno><idno type="DOI">10.1002/ajmg.1320450618</idno><idno type="ArticleID">AJMG1320450618</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0148-7299</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Apert syndrome</term><term>acrocephalosyndactyly</term><term>congenital heart defects</term><term>gastrointestinal anomalies</term><term>genitourinary anomalies</term><term>respiratory anomalies</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">We report on visceral anomalies found in 136 patients with Apert syndrome. Autopsies were only performed on 12 of these cases. Thus, the percentage of anomalies found in our patients should be considered a minimum estimate because of the possibility of clinically silent visceral anomalies, minor internal anomalies, and anatomic variations. Cardiovascular and genitourinary anomalies were found most commonly, occurring in 10% and 9.6%, respectively. As expected, complex and multiple cardiac anomalies were frequently associated with early death. Among genitourinary anomalies, hydronephrosis (3%) and cryptorchidism (4.5%, n =; 66 males) occurred most commonly. In contrast, anomalies of the respiratory system (1.5%) and gastrointestinal anomalies (1.5%) occurred with lower frequency. The finding of a solid cartilaginous trachea is particularly important because no case was diagnosed during life but rather, only at autopsy. Because cardiovascular and genitourinary anomalies occur with significant frequency, they should be considered in the workup of all Apert newborn infants. We also recommend MRI study of the trachea in any infant with signs and symptoms of lower respiratory compromise. © 1993 Wiley‐Liss, Inc.</div></front></TEI><istex><corpusName>wiley</corpusName><author><json:item><name>Dr. Cohen Jr.</name><affiliations><json:string>Department of Oral Biology, Faculty of Dentistry, and Department of Pediatrics, Faculty of Medicine, Dalhousie University, Halifax, Nova Scotia, Canada</json:string><json:string>Dalhousie University, Halifax, Nova Scotia, Canada B3H 3J5</json:string></affiliations></json:item><json:item><name>Sven Kreiborg</name><affiliations><json:string>Department of Pediatric Dentistry, School of Dentistry, Faculty of Health Sciences, University of Copenhagen, Copenhagen, Denmark</json:string></affiliations></json:item></author><subject><json:item><lang><json:string>eng</json:string></lang><value>Apert syndrome</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>acrocephalosyndactyly</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>congenital heart defects</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>respiratory anomalies</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>gastrointestinal anomalies</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>genitourinary anomalies</value></json:item></subject><articleId><json:string>AJMG1320450618</json:string></articleId><language><json:string>eng</json:string></language><originalGenre><json:string>article</json:string></originalGenre><abstract>We report on visceral anomalies found in 136 patients with Apert syndrome. 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Because cardiovascular and genitourinary anomalies occur with significant frequency, they should be considered in the workup of all Apert newborn infants. 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J. Med. Genet.</title><idno type="pISSN">0148-7299</idno><idno type="eISSN">1096-8628</idno><idno type="DOI">10.1002/(ISSN)1096-8628</idno><imprint><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>New York</pubPlace><date type="published" when="1993-03-15"></date><biblScope unit="volume">45</biblScope><biblScope unit="issue">6</biblScope><biblScope unit="page" from="758">758</biblScope><biblScope unit="page" to="760">760</biblScope></imprint></monogr><idno type="istex">7E0713E3EF826EC656F26E8158504042344D7CD3</idno><idno type="DOI">10.1002/ajmg.1320450618</idno><idno type="ArticleID">AJMG1320450618</idno></biblStruct></sourceDesc></fileDesc><profileDesc><creation><date>1993</date></creation><langUsage><language ident="en">en</language></langUsage><abstract xml:lang="en"><p>We report on visceral anomalies found in 136 patients with Apert syndrome. Autopsies were only performed on 12 of these cases. 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Michael</givenNames><familyName>Cohen</familyName><nameSuffix>Jr.</nameSuffix></personName></creator><creator xml:id="au2" creatorRole="author" affiliationRef="#af2"><personName><givenNames>Sven</givenNames><familyName>Kreiborg</familyName></personName></creator></creators><affiliationGroup><affiliation xml:id="af1" countryCode="CA" type="organization"><unparsedAffiliation>Department of Oral Biology, Faculty of Dentistry, and Department of Pediatrics, Faculty of Medicine, Dalhousie University, Halifax, Nova Scotia, Canada</unparsedAffiliation></affiliation><affiliation xml:id="af2" countryCode="DK" type="organization"><unparsedAffiliation>Department of Pediatric Dentistry, School of Dentistry, Faculty of Health Sciences, University of Copenhagen, Copenhagen, Denmark</unparsedAffiliation></affiliation></affiliationGroup><keywordGroup xml:lang="en" type="author"><keyword xml:id="kwd1">Apert syndrome</keyword><keyword xml:id="kwd2">acrocephalosyndactyly</keyword><keyword xml:id="kwd3">congenital heart defects</keyword><keyword xml:id="kwd4">respiratory anomalies</keyword><keyword xml:id="kwd5">gastrointestinal anomalies</keyword><keyword xml:id="kwd6">genitourinary anomalies</keyword></keywordGroup><abstractGroup><abstract type="main" xml:lang="en"><title type="main">Abstract</title><p>We report on visceral anomalies found in 136 patients with Apert syndrome. Autopsies were only performed on 12 of these cases. Thus, the percentage of anomalies found in our patients should be considered a minimum estimate because of the possibility of clinically silent visceral anomalies, minor internal anomalies, and anatomic variations. Cardiovascular and genitourinary anomalies were found most commonly, occurring in 10% and 9.6%, respectively. As expected, complex and multiple cardiac anomalies were frequently associated with early death. Among genitourinary anomalies, hydronephrosis (3%) and cryptorchidism (4.5%, n =; 66 males) occurred most commonly. In contrast, anomalies of the respiratory system (1.5%) and gastrointestinal anomalies (1.5%) occurred with lower frequency. The finding of a solid cartilaginous trachea is particularly important because no case was diagnosed during life but rather, only at autopsy. Because cardiovascular and genitourinary anomalies occur with significant frequency, they should be considered in the workup of all Apert newborn infants. We also recommend MRI study of the trachea in any infant with signs and symptoms of lower respiratory compromise. © 1993 Wiley‐Liss, Inc.</p></abstract></abstractGroup></contentMeta></header></component></istex:document></istex:metadataXml><mods version="3.6"><titleInfo lang="en"><title>Visceral anomalies in the Apert syndrome</title></titleInfo><titleInfo type="abbreviated" lang="en"><title>Apert Syndrome Visceral Anomalies</title></titleInfo><titleInfo type="alternative" contentType="CDATA" lang="en"><title>Visceral anomalies in the Apert syndrome</title></titleInfo><name type="personal"><namePart type="termsOfAddress">Dr.</namePart><namePart type="family">Cohen Jr.</namePart><affiliation>Department of Oral Biology, Faculty of Dentistry, and Department of Pediatrics, Faculty of Medicine, Dalhousie University, Halifax, Nova Scotia, Canada</affiliation><affiliation>Dalhousie University, Halifax, Nova Scotia, Canada B3H 3J5</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Sven</namePart><namePart type="family">Kreiborg</namePart><affiliation>Department of Pediatric Dentistry, School of Dentistry, Faculty of Health Sciences, University of Copenhagen, Copenhagen, Denmark</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">1993-03-15</dateIssued><dateCaptured encoding="w3cdtf">1992-07-01</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="tables">4</extent><extent unit="references">25</extent></physicalDescription><abstract lang="en">We report on visceral anomalies found in 136 patients with Apert syndrome. Autopsies were only performed on 12 of these cases. Thus, the percentage of anomalies found in our patients should be considered a minimum estimate because of the possibility of clinically silent visceral anomalies, minor internal anomalies, and anatomic variations. Cardiovascular and genitourinary anomalies were found most commonly, occurring in 10% and 9.6%, respectively. As expected, complex and multiple cardiac anomalies were frequently associated with early death. Among genitourinary anomalies, hydronephrosis (3%) and cryptorchidism (4.5%, n =; 66 males) occurred most commonly. In contrast, anomalies of the respiratory system (1.5%) and gastrointestinal anomalies (1.5%) occurred with lower frequency. The finding of a solid cartilaginous trachea is particularly important because no case was diagnosed during life but rather, only at autopsy. Because cardiovascular and genitourinary anomalies occur with significant frequency, they should be considered in the workup of all Apert newborn infants. We also recommend MRI study of the trachea in any infant with signs and symptoms of lower respiratory compromise. © 1993 Wiley‐Liss, Inc.</abstract><subject lang="en"><genre>keywords</genre><topic>Apert syndrome</topic><topic>acrocephalosyndactyly</topic><topic>congenital heart defects</topic><topic>respiratory anomalies</topic><topic>gastrointestinal anomalies</topic><topic>genitourinary anomalies</topic></subject><relatedItem type="host"><titleInfo><title>American Journal of Medical Genetics</title></titleInfo><titleInfo type="abbreviated"><title>Am. J. Med. 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