A 19-Week-Old Fetus With Craniosynostosis, Renal Agenesis and Gastroschisis: Case Report and Differential Diagnosis
Identifieur interne : 000133 ( Istex/Corpus ); précédent : 000132; suivant : 000134A 19-Week-Old Fetus With Craniosynostosis, Renal Agenesis and Gastroschisis: Case Report and Differential Diagnosis
Auteurs : Consolato Sergi ; Henning Stein ; Josef G. Heep ; Herwart F. OttoSource :
- Pathology - Research and Practice [ 0344-0338 ] ; 1997.
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Abstract
A case of a fetus affected with craniosynostosis, unilateral renal agensis and gastroschisis is reported. The propositus was delivered on the 19th week of gestation for premature rupture of the membranes. Macroscopy showed turricephaly, shallow orbits, exophthalmos, hypertelorism, hypoplastic maxilla with relative mandibular prognathism and gastroschisis. Additional autopsy findings included a premature bilateral closure of the lambdoid suture and a unilateral renal agenesis. The nosological aspects of this fetus and the differential diagnosis of well-described craniosynostosis syndromes with characteristic craniofacial growth patterns (Crouzon syndrome, Jackson-Weiss syndrome, Apert syndrome, Saethre-Chotzen syndrome, Pfeiffer syndrome) are discussed.
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DOI: 10.1016/S0344-0338(97)80018-0
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ISTEX:1384D25CD5B4D3C632513C46FA9CECDF1DC03F33Le document en format XML
<record><TEI wicri:istexFullTextTei="biblStruct"><teiHeader><fileDesc><titleStmt><title xml:lang="en">A 19-Week-Old Fetus With Craniosynostosis, Renal Agenesis and Gastroschisis: Case Report and Differential Diagnosis</title><author><name sortKey="Sergi, Consolato" sort="Sergi, Consolato" uniqKey="Sergi C" first="Consolato" last="Sergi">Consolato Sergi</name><affiliation><mods:affiliation>Department of Obstestrics and Gynecology, St.-Josefs-Krankenhaus, Heidelberg, Germany</mods:affiliation></affiliation><affiliation><mods:affiliation>E-mail: Consolato_Sergi@krzmail.krz.uni-heidelberg.de</mods:affiliation></affiliation></author><author><name sortKey="Stein, Henning" sort="Stein, Henning" uniqKey="Stein H" first="Henning" last="Stein">Henning Stein</name><affiliation><mods:affiliation>Department of Obstestrics and Gynecology, St.-Josefs-Krankenhaus, Heidelberg, Germany</mods:affiliation></affiliation><affiliation><mods:affiliation>Address for correspondence: Dr. C. Sergi, Institute of Pathology, University of Heidelberg, Im Neuenheimer Feld 220/221, D-69120 Heidelberg, Germany. Tel.: ++49-6221/56 26 02, Fax: ++49-6221/56 52 51</mods:affiliation></affiliation></author><author><name sortKey="Heep, Josef G" sort="Heep, Josef G" uniqKey="Heep J" first="Josef G." last="Heep">Josef G. Heep</name><affiliation><mods:affiliation>Institute of Pathology, University of Heidelberg, Germany</mods:affiliation></affiliation></author><author><name sortKey="Otto, Herwart F" sort="Otto, Herwart F" uniqKey="Otto H" first="Herwart F." last="Otto">Herwart F. Otto</name><affiliation><mods:affiliation>Department of Obstestrics and Gynecology, St.-Josefs-Krankenhaus, Heidelberg, Germany</mods:affiliation></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">ISTEX</idno><idno type="RBID">ISTEX:1384D25CD5B4D3C632513C46FA9CECDF1DC03F33</idno><date when="1997" year="1997">1997</date><idno type="doi">10.1016/S0344-0338(97)80018-0</idno><idno type="url">https://api.istex.fr/document/1384D25CD5B4D3C632513C46FA9CECDF1DC03F33/fulltext/pdf</idno><idno type="wicri:Area/Istex/Corpus">000133</idno><idno type="wicri:explorRef" wicri:stream="Istex" wicri:step="Corpus" wicri:corpus="ISTEX">000133</idno></publicationStmt><sourceDesc><biblStruct><analytic><title level="a" type="main" xml:lang="en">A 19-Week-Old Fetus With Craniosynostosis, Renal Agenesis and Gastroschisis: Case Report and Differential Diagnosis</title><author><name sortKey="Sergi, Consolato" sort="Sergi, Consolato" uniqKey="Sergi C" first="Consolato" last="Sergi">Consolato Sergi</name><affiliation><mods:affiliation>Department of Obstestrics and Gynecology, St.-Josefs-Krankenhaus, Heidelberg, Germany</mods:affiliation></affiliation><affiliation><mods:affiliation>E-mail: Consolato_Sergi@krzmail.krz.uni-heidelberg.de</mods:affiliation></affiliation></author><author><name sortKey="Stein, Henning" sort="Stein, Henning" uniqKey="Stein H" first="Henning" last="Stein">Henning Stein</name><affiliation><mods:affiliation>Department of Obstestrics and Gynecology, St.-Josefs-Krankenhaus, Heidelberg, Germany</mods:affiliation></affiliation><affiliation><mods:affiliation>Address for correspondence: Dr. C. Sergi, Institute of Pathology, University of Heidelberg, Im Neuenheimer Feld 220/221, D-69120 Heidelberg, Germany. Tel.: ++49-6221/56 26 02, Fax: ++49-6221/56 52 51</mods:affiliation></affiliation></author><author><name sortKey="Heep, Josef G" sort="Heep, Josef G" uniqKey="Heep J" first="Josef G." last="Heep">Josef G. Heep</name><affiliation><mods:affiliation>Institute of Pathology, University of Heidelberg, Germany</mods:affiliation></affiliation></author><author><name sortKey="Otto, Herwart F" sort="Otto, Herwart F" uniqKey="Otto H" first="Herwart F." last="Otto">Herwart F. Otto</name><affiliation><mods:affiliation>Department of Obstestrics and Gynecology, St.-Josefs-Krankenhaus, Heidelberg, Germany</mods:affiliation></affiliation></author></analytic><monogr></monogr><series><title level="j">Pathology - Research and Practice</title><title level="j" type="abbrev">PRP</title><idno type="ISSN">0344-0338</idno><imprint><publisher>ELSEVIER</publisher><date type="published" when="1997">1997</date><biblScope unit="volume">193</biblScope><biblScope unit="issue">8</biblScope><biblScope unit="page" from="579">579</biblScope><biblScope unit="page" to="585">585</biblScope></imprint><idno type="ISSN">0344-0338</idno></series><idno type="istex">1384D25CD5B4D3C632513C46FA9CECDF1DC03F33</idno><idno type="DOI">10.1016/S0344-0338(97)80018-0</idno><idno type="PII">S0344-0338(97)80018-0</idno><idno type="ArticleID">80018</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0344-0338</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Craniosynostosis</term><term>Gastrochisis</term><term>Renal angenesis</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract">A case of a fetus affected with craniosynostosis, unilateral renal agensis and gastroschisis is reported. The propositus was delivered on the 19th week of gestation for premature rupture of the membranes. Macroscopy showed turricephaly, shallow orbits, exophthalmos, hypertelorism, hypoplastic maxilla with relative mandibular prognathism and gastroschisis. Additional autopsy findings included a premature bilateral closure of the lambdoid suture and a unilateral renal agenesis. The nosological aspects of this fetus and the differential diagnosis of well-described craniosynostosis syndromes with characteristic craniofacial growth patterns (Crouzon syndrome, Jackson-Weiss syndrome, Apert syndrome, Saethre-Chotzen syndrome, Pfeiffer syndrome) are discussed.</div></front></TEI><istex><corpusName>elsevier</corpusName><author><json:item><name>Consolato Sergi</name><affiliations><json:string>Department of Obstestrics and Gynecology, St.-Josefs-Krankenhaus, Heidelberg, Germany</json:string><json:string>E-mail: Consolato_Sergi@krzmail.krz.uni-heidelberg.de</json:string></affiliations></json:item><json:item><name>Henning Stein</name><affiliations><json:string>Department of Obstestrics and Gynecology, St.-Josefs-Krankenhaus, Heidelberg, Germany</json:string><json:string>Address for correspondence: Dr. C. Sergi, Institute of Pathology, University of Heidelberg, Im Neuenheimer Feld 220/221, D-69120 Heidelberg, Germany. Tel.: ++49-6221/56 26 02, Fax: ++49-6221/56 52 51</json:string></affiliations></json:item><json:item><name>Josef G. Heep</name><affiliations><json:string>Institute of Pathology, University of Heidelberg, Germany</json:string></affiliations></json:item><json:item><name>Herwart F. Otto</name><affiliations><json:string>Department of Obstestrics and Gynecology, St.-Josefs-Krankenhaus, Heidelberg, Germany</json:string></affiliations></json:item></author><subject><json:item><lang><json:string>eng</json:string></lang><value>Craniosynostosis</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>Renal angenesis</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>Gastrochisis</value></json:item></subject><articleId><json:string>80018</json:string></articleId><language><json:string>eng</json:string></language><abstract>A case of a fetus affected with craniosynostosis, unilateral renal agensis and gastroschisis is reported. 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Sergi, Institute of Pathology, University of Heidelberg, Im Neuenheimer Feld 220/221, D-69120 Heidelberg, Germany. Tel.: ++49-6221/56 26 02, Fax: ++49-6221/56 52 51</affiliation></author><author><persName><forename type="first">Josef G.</forename><surname>Heep</surname></persName><affiliation>Institute of Pathology, University of Heidelberg, Germany</affiliation></author><author><persName><forename type="first">Herwart F.</forename><surname>Otto</surname></persName><affiliation>Department of Obstestrics and Gynecology, St.-Josefs-Krankenhaus, Heidelberg, Germany</affiliation></author></analytic><monogr><title level="j">Pathology - Research and Practice</title><title level="j" type="abbrev">PRP</title><idno type="pISSN">0344-0338</idno><idno type="PII">S0344-0338(97)X8011-2</idno><imprint><publisher>ELSEVIER</publisher><date type="published" when="1997"></date><biblScope unit="volume">193</biblScope><biblScope unit="issue">8</biblScope><biblScope unit="page" from="579">579</biblScope><biblScope unit="page" to="585">585</biblScope></imprint></monogr><idno type="istex">1384D25CD5B4D3C632513C46FA9CECDF1DC03F33</idno><idno type="DOI">10.1016/S0344-0338(97)80018-0</idno><idno type="PII">S0344-0338(97)80018-0</idno><idno type="ArticleID">80018</idno></biblStruct></sourceDesc></fileDesc><profileDesc><creation><date>1997</date></creation><langUsage><language ident="en">en</language></langUsage><abstract><p>A case of a fetus affected with craniosynostosis, unilateral renal agensis and gastroschisis is reported. The propositus was delivered on the 19th week of gestation for premature rupture of the membranes. Macroscopy showed turricephaly, shallow orbits, exophthalmos, hypertelorism, hypoplastic maxilla with relative mandibular prognathism and gastroschisis. Additional autopsy findings included a premature bilateral closure of the lambdoid suture and a unilateral renal agenesis. The nosological aspects of this fetus and the differential diagnosis of well-described craniosynostosis syndromes with characteristic craniofacial growth patterns (Crouzon syndrome, Jackson-Weiss syndrome, Apert syndrome, Saethre-Chotzen syndrome, Pfeiffer syndrome) are discussed.</p></abstract><textClass xml:lang="en"><keywords scheme="keyword"><list><head>Key words</head><item><term>Craniosynostosis</term></item><item><term>Renal angenesis</term></item><item><term>Gastrochisis</term></item></list></keywords></textClass></profileDesc><revisionDesc><change when="1997-07-21">Registration</change><change when="1997">Published</change></revisionDesc></teiHeader></istex:fulltextTEI></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>PRP</jid><aid>80018</aid><ce:pii>S0344-0338(97)80018-0</ce:pii><ce:doi>10.1016/S0344-0338(97)80018-0</ce:doi><ce:copyright type="other" year="1997">Gustav Fischer Verlag</ce:copyright></item-info><head><ce:title>A 19-Week-Old Fetus With Craniosynostosis, Renal Agenesis and Gastroschisis: Case Report and Differential Diagnosis</ce:title><ce:author-group><ce:author><ce:given-name>Consolato</ce:given-name><ce:surname>Sergi</ce:surname><ce:cross-ref refid="aff2"><ce:sup>2</ce:sup></ce:cross-ref><ce:e-address type="email">Consolato_Sergi@krzmail.krz.uni-heidelberg.de</ce:e-address></ce:author><ce:author><ce:given-name>Henning</ce:given-name><ce:surname>Stein</ce:surname><ce:cross-ref refid="aff2"><ce:sup>2</ce:sup></ce:cross-ref><ce:cross-ref refid="cor1"><ce:sup>a</ce:sup></ce:cross-ref></ce:author><ce:author><ce:given-name>Josef G.</ce:given-name><ce:surname>Heep</ce:surname><ce:cross-ref refid="aff1"><ce:sup>1</ce:sup></ce:cross-ref></ce:author><ce:author><ce:given-name>Herwart F.</ce:given-name><ce:surname>Otto</ce:surname><ce:cross-ref refid="aff2"><ce:sup>2</ce:sup></ce:cross-ref></ce:author><ce:affiliation id="aff1"><ce:label>2</ce:label><ce:textfn>Institute of Pathology, University of Heidelberg, Germany</ce:textfn></ce:affiliation><ce:affiliation id="aff2"><ce:label>1</ce:label><ce:textfn>Department of Obstestrics and Gynecology, St.-Josefs-Krankenhaus, Heidelberg, Germany</ce:textfn></ce:affiliation><ce:correspondence id="cor1"><ce:label>a</ce:label><ce:text>Address for correspondence: Dr. C. Sergi, Institute of Pathology, University of Heidelberg, Im Neuenheimer Feld 220/221, D-69120 Heidelberg, Germany. Tel.: ++49-6221/56 26 02, Fax: ++49-6221/56 52 51</ce:text></ce:correspondence></ce:author-group><ce:date-received day="22" month="7" year="1996"></ce:date-received><ce:date-accepted day="21" month="7" year="1997"></ce:date-accepted><ce:abstract id="ab1"><ce:section-title>Summary</ce:section-title><ce:abstract-sec><ce:simple-para id="SP0005">A case of a fetus affected with craniosynostosis, unilateral renal agensis and gastroschisis is reported. The propositus was delivered on the 19th week of gestation for premature rupture of the membranes. Macroscopy showed turricephaly, shallow orbits, exophthalmos, hypertelorism, hypoplastic maxilla with relative mandibular prognathism and gastroschisis. Additional autopsy findings included a premature bilateral closure of the lambdoid suture and a unilateral renal agenesis. The nosological aspects of this fetus and the differential diagnosis of well-described craniosynostosis syndromes with characteristic craniofacial growth patterns (Crouzon syndrome, Jackson-Weiss syndrome, Apert syndrome, Saethre-Chotzen syndrome, Pfeiffer syndrome) are discussed.</ce:simple-para></ce:abstract-sec></ce:abstract><ce:keywords class="keyword" xml:lang="en"><ce:section-title>Key words</ce:section-title><ce:keyword><ce:text>Craniosynostosis</ce:text></ce:keyword><ce:keyword><ce:text>Renal angenesis</ce:text></ce:keyword><ce:keyword><ce:text>Gastrochisis</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>FRB</ce:given-name><ce:surname>Atkinson</ce:surname></sb:author></sb:authors><sb:title><sb:maintitle>Hereditary craniofacial dysostosis or Crouzon's 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Consolato_Sergi@krzmail.krz.uni-heidelberg.de</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Henning</namePart><namePart type="family">Stein</namePart><affiliation>Department of Obstestrics and Gynecology, St.-Josefs-Krankenhaus, Heidelberg, Germany</affiliation><affiliation>Address for correspondence: Dr. C. Sergi, Institute of Pathology, University of Heidelberg, Im Neuenheimer Feld 220/221, D-69120 Heidelberg, Germany. Tel.: ++49-6221/56 26 02, Fax: ++49-6221/56 52 51</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Josef G.</namePart><namePart type="family">Heep</namePart><affiliation>Institute of Pathology, University of Heidelberg, Germany</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Herwart F.</namePart><namePart type="family">Otto</namePart><affiliation>Department of Obstestrics and Gynecology, St.-Josefs-Krankenhaus, Heidelberg, Germany</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">1997</dateIssued><dateValid encoding="w3cdtf">1997-07-21</dateValid><copyrightDate encoding="w3cdtf">1997</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>A case of a fetus affected with craniosynostosis, unilateral renal agensis and gastroschisis is reported. The propositus was delivered on the 19th week of gestation for premature rupture of the membranes. Macroscopy showed turricephaly, shallow orbits, exophthalmos, hypertelorism, hypoplastic maxilla with relative mandibular prognathism and gastroschisis. Additional autopsy findings included a premature bilateral closure of the lambdoid suture and a unilateral renal agenesis. The nosological aspects of this fetus and the differential diagnosis of well-described craniosynostosis syndromes with characteristic craniofacial growth patterns (Crouzon syndrome, Jackson-Weiss syndrome, Apert syndrome, Saethre-Chotzen syndrome, Pfeiffer syndrome) are discussed.</abstract><subject lang="en"><genre>Key words</genre><topic>Craniosynostosis</topic><topic>Renal angenesis</topic><topic>Gastrochisis</topic></subject><relatedItem type="host"><titleInfo><title>Pathology - Research and Practice</title></titleInfo><titleInfo type="abbreviated"><title>PRP</title></titleInfo><genre type="Journal">journal</genre><originInfo><dateIssued encoding="w3cdtf">1997</dateIssued></originInfo><identifier type="ISSN">0344-0338</identifier><identifier type="PII">S0344-0338(97)X8011-2</identifier><part><detail type="volume"><number>193</number><caption>vol.</caption></detail><detail type="issue"><number>8</number><caption>no.</caption></detail><extent unit="issue pages"><start>535</start><end>596</end></extent><extent unit="pages"><start>579</start><end>585</end></extent></part></relatedItem><identifier type="istex">1384D25CD5B4D3C632513C46FA9CECDF1DC03F33</identifier><identifier type="DOI">10.1016/S0344-0338(97)80018-0</identifier><identifier type="PII">S0344-0338(97)80018-0</identifier><identifier type="ArticleID">80018</identifier><accessCondition type="use and reproduction" contentType="">© 1997Gustav Fischer Verlag</accessCondition><recordInfo><recordContentSource>ELSEVIER</recordContentSource><recordOrigin>Gustav Fischer Verlag, ©1997</recordOrigin></recordInfo></mods></metadata></istex></record>Pour manipuler ce document sous Unix (Dilib)
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