AustralieFrV1, Main, Exploration, bibRecord, 009566

Gastroschisis and associated defects : An international study. Commentary : Gastroschisis

Identifieur interne : 009566 ( Main/Exploration ); précédent : 009565; suivant : 009567

Gastroschisis and associated defects : An international study. Commentary : Gastroschisis

Auteurs : John M. Opitz [États-Unis] ; Pierpaolo Mastroiacovo [Italie] ; Alessandra Lisi [Italie] ; Eduardo E. Castilla [Brésil] ; Maria-Luisa Martinez-Frias [Espagne] ; Eva Bermejo [Espagne] ; Lisa Marengo [États-Unis] ; Jim Kucik [États-Unis] ; Csaba Siffel [États-Unis] ; Jane Halliday [Australie] ; Miriam Gatt [Malte] ; Göran Anneren [Suède] ; Fabrizio Bianchi [Italie] ; M. Aurora Canessa [Chili] ; Ron Danderfer [Canada] ; Hermien De Walle [Pays-Bas] ; John Harris [États-Unis] ; ZHU LI [République populaire de Chine] ; R. Brian Lowry [Canada] ; Robert Mcdonell [Irlande (pays)] ; Paul Mcrlob [Israël] ; Julia Metneki [Hongrie] ; Osvaldo Mutchinick [Mexique] ; Elisabeth Robert-Gnansia [France] ; Gioacchino Scarano [Italie] ; Antonin Sipek [République tchèque] ; Simone Pötzsch [Allemagne] ; Elena Szabova ; Lyubov Yevtushok

Source :

American journal of medical genetics. Part A [ 1552-4825 ] ; 2007.

RBID : Pascal:07-0188444

Descripteurs français

Pascal (Inist)
- Gastroschisis, Multiple, Malformation, Paroi abdominale.

English descriptors

KwdEn :
- Abdominal wall, Gastrochisis, Malformation, Multiple.

Abstract

Our objective was to evaluate the frequency and type of malformations associated with gastroschisis in a large pool of international data, to identify malformation patterns, and to evaluate the role of maternal age in non-isolated cases. Case-by-case information from 24 registries, all members of the International Clearinghouse for Birth Defects Surveillance and Research (ICBDSR), were evaluated. After the exclusion of other abdominal wall defects cases were classified as: (a) isolated; (b) recognizable syndrome, chromosomal or not; (c) multiple congenital anomalies (MCA). Our results showed that out of 3,322 total cases 469 non-isolated cases were registered (14.1%); 41 chromosomal syndromes, 24 other syndromes, and 404 MCA. Among MCA four groups of anomalies were most frequent: CNS (4.5%), cardiovascular (2.5%), limb (2.2%), and kidney anomalies (1.9%). No similar patterns emerged except two patterns resembling limb-body wall complex and OEIS. In both of them the gastroschisis could he however misclassified. Chromosomal trisomies and possibly non-syndromic MCA are associated with an older maternal age more than isolated cases. On consideration of our data and the most valid micelle published in the literature, the best estimate of the proportion of gastroschisis associated with major unrelated defects is about 10%, with a few cases associated to recognizable syndromes. Recognized syndromes with gastroschisis seem to be so exceptional that the well documented and validated cases are worth being published as interesting case report. An appropriate case definition in etiological studies should include only isolated gastroschisis after an appropriate definition of isolated and non-isolated cases and a thorough case-hy-case review.

Affiliations:

Allemagne, Australie, Brésil, Canada, Chili, Espagne, France, Hongrie, Irlande (pays), Israël, Italie, Malte, Mexique, Pays-Bas, République populaire de Chine, République tchèque, Suède, États-Unis
Auvergne-Rhône-Alpes, Bohême centrale, Californie, Communauté de Madrid, Groningue (province), Géorgie (États-Unis), Hongrie centrale, Latium, Rhône-Alpes, Saxe-Anhalt, Texas, Toscane, Utah
Budapest, Groningue, Lyon, Madrid, Magdebourg, Pise, Prague, Pékin, Rome

Links toward previous steps (curation, corpus...)

to stream PascalFrancis, to step Corpus: 003D05
to stream PascalFrancis, to step Curation: 002383
to stream PascalFrancis, to step Checkpoint: 003877
to stream Main, to step Merge: 009F89
to stream Main, to step Curation: 009566

Le document en format XML

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<author><name sortKey="Marengo, Lisa" sort="Marengo, Lisa" uniqKey="Marengo L" first="Lisa" last="Marengo">Lisa Marengo</name>
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<author><name sortKey="Gatt, Miriam" sort="Gatt, Miriam" uniqKey="Gatt M" first="Miriam" last="Gatt">Miriam Gatt</name>
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<author><name sortKey="Aurora Canessa, M" sort="Aurora Canessa, M" uniqKey="Aurora Canessa M" first="M." last="Aurora Canessa">M. Aurora Canessa</name>
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<country>Chili</country>
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<author><name sortKey="Danderfer, Ron" sort="Danderfer, Ron" uniqKey="Danderfer R" first="Ron" last="Danderfer">Ron Danderfer</name>
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<country>Canada</country>
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<author><name sortKey="Harris, John" sort="Harris, John" uniqKey="Harris J" first="John" last="Harris">John Harris</name>
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<author><name sortKey="Zhu Li" sort="Zhu Li" uniqKey="Zhu Li" last="Zhu Li">ZHU LI</name>
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<s2>Beijing</s2>
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<author><name sortKey="Lowry, R Brian" sort="Lowry, R Brian" uniqKey="Lowry R" first="R. Brian" last="Lowry">R. Brian Lowry</name>
<affiliation wicri:level="1"><inist:fA14 i1="17"><s1>Department of Medical Genetics, Alberta Children Hospital</s1>
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<s3>CAN</s3>
<sZ>19 aut.</sZ>
</inist:fA14>
<country>Canada</country>
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</author>
<author><name sortKey="Mcdonell, Robert" sort="Mcdonell, Robert" uniqKey="Mcdonell R" first="Robert" last="Mcdonell">Robert Mcdonell</name>
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<author><name sortKey="Mcrlob, Paul" sort="Mcrlob, Paul" uniqKey="Mcrlob P" first="Paul" last="Mcrlob">Paul Mcrlob</name>
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</inist:fA14>
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<placeName><settlement type="city">Budapest</settlement>
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</affiliation>
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<author><name sortKey="Mutchinick, Osvaldo" sort="Mutchinick, Osvaldo" uniqKey="Mutchinick O" first="Osvaldo" last="Mutchinick">Osvaldo Mutchinick</name>
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<s2>Mexico City</s2>
<s3>MEX</s3>
<sZ>23 aut.</sZ>
</inist:fA14>
<country>Mexique</country>
<wicri:noRegion>Mexico City</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Robert Gnansia, Elisabeth" sort="Robert Gnansia, Elisabeth" uniqKey="Robert Gnansia E" first="Elisabeth" last="Robert-Gnansia">Elisabeth Robert-Gnansia</name>
<affiliation wicri:level="3"><inist:fA14 i1="22"><s1>Institut Européen Les Génomutations</s1>
<s2>Lyon</s2>
<s3>FRA</s3>
<sZ>24 aut.</sZ>
</inist:fA14>
<country>France</country>
<placeName><region type="region">Auvergne-Rhône-Alpes</region>
<region type="old region">Rhône-Alpes</region>
<settlement type="city">Lyon</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Scarano, Gioacchino" sort="Scarano, Gioacchino" uniqKey="Scarano G" first="Gioacchino" last="Scarano">Gioacchino Scarano</name>
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<s3>ITA</s3>
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<wicri:noRegion>Naples</wicri:noRegion>
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<author><name sortKey="Sipek, Antonin" sort="Sipek, Antonin" uniqKey="Sipek A" first="Antonin" last="Sipek">Antonin Sipek</name>
<affiliation wicri:level="3"><inist:fA14 i1="24"><s1>Deppartment of Population Teratology, Institute for Care of Mother and Child</s1>
<s2>Prague</s2>
<s3>CZE</s3>
<sZ>26 aut.</sZ>
</inist:fA14>
<country>République tchèque</country>
<placeName><settlement type="city">Prague</settlement>
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</placeName>
</affiliation>
</author>
<author><name sortKey="Potzsch, Simone" sort="Potzsch, Simone" uniqKey="Potzsch S" first="Simone" last="Pötzsch">Simone Pötzsch</name>
<affiliation wicri:level="3"><inist:fA14 i1="25"><s1>Malformation Monitoring Saxony-Anhalt, Faculty of Medicine, Otto-von-Guericke University</s1>
<s2>Magdeburg</s2>
<s3>DEU</s3>
<sZ>27 aut.</sZ>
</inist:fA14>
<country>Allemagne</country>
<placeName><region type="land" nuts="2">Saxe-Anhalt</region>
<settlement type="city">Magdebourg</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Szabova, Elena" sort="Szabova, Elena" uniqKey="Szabova E" first="Elena" last="Szabova">Elena Szabova</name>
</author>
<author><name sortKey="Yevtushok, Lyubov" sort="Yevtushok, Lyubov" uniqKey="Yevtushok L" first="Lyubov" last="Yevtushok">Lyubov Yevtushok</name>
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<author><name sortKey="Opitz, John M" sort="Opitz, John M" uniqKey="Opitz J" first="John M." last="Opitz">John M. Opitz</name>
<affiliation wicri:level="2"><inist:fA14 i1="01"><s1>Pediatrics (Medical Genetics), Human Genetics, Obstetrics And Gynecology, Pathology, School of Medicine, University of Utah</s1>
<s2>Salt Lake City, Utah</s2>
<s3>USA</s3>
<sZ>1 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
<placeName><region type="state">Utah</region>
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<author><name sortKey="Mastroiacovo, Pierpaolo" sort="Mastroiacovo, Pierpaolo" uniqKey="Mastroiacovo P" first="Pierpaolo" last="Mastroiacovo">Pierpaolo Mastroiacovo</name>
<affiliation wicri:level="3"><inist:fA14 i1="02"><s1>Centre of the International Clearinghouse for Birth Defects Surveillance and Research</s1>
<s2>Rome</s2>
<s3>ITA</s3>
<sZ>2 aut.</sZ>
<sZ>3 aut.</sZ>
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<placeName><settlement type="city">Rome</settlement>
<region nuts="2">Latium</region>
</placeName>
</affiliation>
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<author><name sortKey="Lisi, Alessandra" sort="Lisi, Alessandra" uniqKey="Lisi A" first="Alessandra" last="Lisi">Alessandra Lisi</name>
<affiliation wicri:level="3"><inist:fA14 i1="02"><s1>Centre of the International Clearinghouse for Birth Defects Surveillance and Research</s1>
<s2>Rome</s2>
<s3>ITA</s3>
<sZ>2 aut.</sZ>
<sZ>3 aut.</sZ>
</inist:fA14>
<country>Italie</country>
<placeName><settlement type="city">Rome</settlement>
<region nuts="2">Latium</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Castilla, Eduardo E" sort="Castilla, Eduardo E" uniqKey="Castilla E" first="Eduardo E." last="Castilla">Eduardo E. Castilla</name>
<affiliation wicri:level="1"><inist:fA14 i1="03"><s1>ECLAMC. Dept . Genetica/FIOCRUZ</s1>
<s2>Rio De Janeiro</s2>
<s3>BRA</s3>
<sZ>4 aut.</sZ>
</inist:fA14>
<country>Brésil</country>
<wicri:noRegion>ECLAMC. Dept . Genetica/FIOCRUZ</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Martinez Frias, Maria Luisa" sort="Martinez Frias, Maria Luisa" uniqKey="Martinez Frias M" first="Maria-Luisa" last="Martinez-Frias">Maria-Luisa Martinez-Frias</name>
<affiliation wicri:level="3"><inist:fA14 i1="04"><s1>ECEMC, Centro tie Investigación sobre Anomalías Congénitas (CIAC), Institute) de Salud Carlos III</s1>
<s2>Madrid</s2>
<s3>ESP</s3>
<sZ>5 aut.</sZ>
<sZ>6 aut.</sZ>
</inist:fA14>
<country>Espagne</country>
<placeName><settlement type="city">Madrid</settlement>
<region nuts="2" type="region">Communauté de Madrid</region>
</placeName>
</affiliation>
<affiliation wicri:level="3"><inist:fA14 i1="05"><s1>Department of Pharmacology, Faculty of Medicine, Universidad Compkitense</s1>
<s2>Madrid</s2>
<s3>ESP</s3>
<sZ>5 aut.</sZ>
</inist:fA14>
<country>Espagne</country>
<placeName><settlement type="city">Madrid</settlement>
<region nuts="2" type="region">Communauté de Madrid</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Bermejo, Eva" sort="Bermejo, Eva" uniqKey="Bermejo E" first="Eva" last="Bermejo">Eva Bermejo</name>
<affiliation wicri:level="3"><inist:fA14 i1="04"><s1>ECEMC, Centro tie Investigación sobre Anomalías Congénitas (CIAC), Institute) de Salud Carlos III</s1>
<s2>Madrid</s2>
<s3>ESP</s3>
<sZ>5 aut.</sZ>
<sZ>6 aut.</sZ>
</inist:fA14>
<country>Espagne</country>
<placeName><settlement type="city">Madrid</settlement>
<region nuts="2" type="region">Communauté de Madrid</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Marengo, Lisa" sort="Marengo, Lisa" uniqKey="Marengo L" first="Lisa" last="Marengo">Lisa Marengo</name>
<affiliation wicri:level="2"><inist:fA14 i1="06"><s1>Birth Defects Epidemiology and Surveillance Branch, Texas Department of State Health Services</s1>
<s2>Austin, Texas</s2>
<s3>USA</s3>
<sZ>7 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
<placeName><region type="state">Texas</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Kucik, Jim" sort="Kucik, Jim" uniqKey="Kucik J" first="Jim" last="Kucik">Jim Kucik</name>
<affiliation wicri:level="2"><inist:fA14 i1="07"><s1>National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention</s1>
<s2>Atlanta, Georgia</s2>
<s3>USA</s3>
<sZ>8 aut.</sZ>
<sZ>9 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
<placeName><region type="state">Géorgie (États-Unis)</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Siffel, Csaba" sort="Siffel, Csaba" uniqKey="Siffel C" first="Csaba" last="Siffel">Csaba Siffel</name>
<affiliation wicri:level="2"><inist:fA14 i1="07"><s1>National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention</s1>
<s2>Atlanta, Georgia</s2>
<s3>USA</s3>
<sZ>8 aut.</sZ>
<sZ>9 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
<placeName><region type="state">Géorgie (États-Unis)</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Halliday, Jane" sort="Halliday, Jane" uniqKey="Halliday J" first="Jane" last="Halliday">Jane Halliday</name>
<affiliation wicri:level="1"><inist:fA14 i1="08"><s1>Birth Defects Register, Perinatal Data Collection Unit</s1>
<s2>Melbourne, Victoria</s2>
<s3>AUS</s3>
<sZ>10 aut.</sZ>
</inist:fA14>
<country>Australie</country>
<wicri:noRegion>Melbourne, Victoria</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Gatt, Miriam" sort="Gatt, Miriam" uniqKey="Gatt M" first="Miriam" last="Gatt">Miriam Gatt</name>
<affiliation wicri:level="1"><inist:fA14 i1="09"><s1>Malta Congenital Anomalies Registry Department of Health Information</s1>
<s2>Guardamangia</s2>
<s3>MLT</s3>
<sZ>11 aut.</sZ>
</inist:fA14>
<country>Malte</country>
<wicri:noRegion>Malta Congenital Anomalies Registry Department of Health Information</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Anneren, Goran" sort="Anneren, Goran" uniqKey="Anneren G" first="Göran" last="Anneren">Göran Anneren</name>
<affiliation wicri:level="1"><inist:fA14 i1="10"><s1>Department of Clinical Genetics, Uppsala University Children's Hospital</s1>
<s2>Uppsala</s2>
<s3>SWE</s3>
<sZ>12 aut.</sZ>
</inist:fA14>
<country>Suède</country>
<wicri:noRegion>Uppsala</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Bianchi, Fabrizio" sort="Bianchi, Fabrizio" uniqKey="Bianchi F" first="Fabrizio" last="Bianchi">Fabrizio Bianchi</name>
<affiliation wicri:level="3"><inist:fA14 i1="11"><s1>Sezione di Epidemiologia e Biostatistica, Istituto di Fisiologia Clinica del Consiglio Naxionale delle Ricerche</s1>
<s2>Pisa</s2>
<s3>ITA</s3>
<sZ>13 aut.</sZ>
</inist:fA14>
<country>Italie</country>
<placeName><settlement type="city">Pise</settlement>
<region nuts="2">Toscane</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Aurora Canessa, M" sort="Aurora Canessa, M" uniqKey="Aurora Canessa M" first="M." last="Aurora Canessa">M. Aurora Canessa</name>
<affiliation wicri:level="1"><inist:fA14 i1="12"><s1>Linares Hospital</s1>
<s2>Maule Region</s2>
<s3>CHL</s3>
<sZ>14 aut.</sZ>
</inist:fA14>
<country>Chili</country>
<wicri:noRegion>Linares Hospital</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Danderfer, Ron" sort="Danderfer, Ron" uniqKey="Danderfer R" first="Ron" last="Danderfer">Ron Danderfer</name>
<affiliation wicri:level="1"><inist:fA14 i1="13"><s1>Health Status Registry, BC Vital Statistics Agency</s1>
<s2>Victoria, British Columbia</s2>
<s3>CAN</s3>
<sZ>15 aut.</sZ>
</inist:fA14>
<country>Canada</country>
<wicri:noRegion>Victoria, British Columbia</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="De Walle, Hermien" sort="De Walle, Hermien" uniqKey="De Walle H" first="Hermien" last="De Walle">Hermien De Walle</name>
<affiliation wicri:level="3"><inist:fA14 i1="14"><s1>EUROCAT Northern Netherlands, Department of Genetics, University Medical Center Groningen, University of Groningen</s1>
<s2>Groningen</s2>
<s3>NLD</s3>
<sZ>16 aut.</sZ>
</inist:fA14>
<country>Pays-Bas</country>
<placeName><settlement type="city">Groningue</settlement>
<region nuts="2" type="province">Groningue (province)</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Harris, John" sort="Harris, John" uniqKey="Harris J" first="John" last="Harris">John Harris</name>
<affiliation wicri:level="2"><inist:fA14 i1="15"><s1>California Birth Defects Monitoring Program, California Department of Health Services</s1>
<s2>Oakland, California</s2>
<s3>USA</s3>
<sZ>17 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
<placeName><region type="state">Californie</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Zhu Li" sort="Zhu Li" uniqKey="Zhu Li" last="Zhu Li">ZHU LI</name>
<affiliation wicri:level="3"><inist:fA14 i1="16"><s1>China National Centre for Maternal and Infant Health, Beijing Medical University</s1>
<s2>Beijing</s2>
<s3>CHN</s3>
<sZ>18 aut.</sZ>
</inist:fA14>
<country>République populaire de Chine</country>
<placeName><settlement type="city">Pékin</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Lowry, R Brian" sort="Lowry, R Brian" uniqKey="Lowry R" first="R. Brian" last="Lowry">R. Brian Lowry</name>
<affiliation wicri:level="1"><inist:fA14 i1="17"><s1>Department of Medical Genetics, Alberta Children Hospital</s1>
<s2>Calgary, Alberta</s2>
<s3>CAN</s3>
<sZ>19 aut.</sZ>
</inist:fA14>
<country>Canada</country>
<wicri:noRegion>Calgary, Alberta</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Mcdonell, Robert" sort="Mcdonell, Robert" uniqKey="Mcdonell R" first="Robert" last="Mcdonell">Robert Mcdonell</name>
<affiliation wicri:level="1"><inist:fA14 i1="18"><s1>Departement of Public Health, Eastern Regional Health Authority, Dr. Steven's Hospital</s1>
<s2>Dublin</s2>
<s3>IRL</s3>
<sZ>20 aut.</sZ>
</inist:fA14>
<country>Irlande (pays)</country>
<wicri:noRegion>Dublin</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Mcrlob, Paul" sort="Mcrlob, Paul" uniqKey="Mcrlob P" first="Paul" last="Mcrlob">Paul Mcrlob</name>
<affiliation wicri:level="1"><inist:fA14 i1="19"><s1>Department of Neonatology, Rabin Medical Center, Beilinson Campus</s1>
<s2>Petah Tikva</s2>
<s3>ISR</s3>
<sZ>21 aut.</sZ>
</inist:fA14>
<country>Israël</country>
<wicri:noRegion>Petah Tikva</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Metneki, Julia" sort="Metneki, Julia" uniqKey="Metneki J" first="Julia" last="Metneki">Julia Metneki</name>
<affiliation wicri:level="3"><inist:fA14 i1="20"><s1>Department of Human Genetics and Teratology, National Center for Epidemiology, Gyali</s1>
<s2>Budapest</s2>
<s3>HUN</s3>
<sZ>22 aut.</sZ>
</inist:fA14>
<country>Hongrie</country>
<placeName><settlement type="city">Budapest</settlement>
<region nuts="2">Hongrie centrale</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Mutchinick, Osvaldo" sort="Mutchinick, Osvaldo" uniqKey="Mutchinick O" first="Osvaldo" last="Mutchinick">Osvaldo Mutchinick</name>
<affiliation wicri:level="1"><inist:fA14 i1="21"><s1>RYVEMCE, Department of Genetics, National Institute of Medical Sciences and Nutrition Salvador Zuhiran</s1>
<s2>Mexico City</s2>
<s3>MEX</s3>
<sZ>23 aut.</sZ>
</inist:fA14>
<country>Mexique</country>
<wicri:noRegion>Mexico City</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Robert Gnansia, Elisabeth" sort="Robert Gnansia, Elisabeth" uniqKey="Robert Gnansia E" first="Elisabeth" last="Robert-Gnansia">Elisabeth Robert-Gnansia</name>
<affiliation wicri:level="3"><inist:fA14 i1="22"><s1>Institut Européen Les Génomutations</s1>
<s2>Lyon</s2>
<s3>FRA</s3>
<sZ>24 aut.</sZ>
</inist:fA14>
<country>France</country>
<placeName><region type="region">Auvergne-Rhône-Alpes</region>
<region type="old region">Rhône-Alpes</region>
<settlement type="city">Lyon</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Scarano, Gioacchino" sort="Scarano, Gioacchino" uniqKey="Scarano G" first="Gioacchino" last="Scarano">Gioacchino Scarano</name>
<affiliation wicri:level="1"><inist:fA14 i1="23"><s1>Osservatorio Epidemiologico Regionale, Assessorato alia Sanita-Regione Campania</s1>
<s2>Naples</s2>
<s3>ITA</s3>
<sZ>25 aut.</sZ>
</inist:fA14>
<country>Italie</country>
<wicri:noRegion>Naples</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Sipek, Antonin" sort="Sipek, Antonin" uniqKey="Sipek A" first="Antonin" last="Sipek">Antonin Sipek</name>
<affiliation wicri:level="3"><inist:fA14 i1="24"><s1>Deppartment of Population Teratology, Institute for Care of Mother and Child</s1>
<s2>Prague</s2>
<s3>CZE</s3>
<sZ>26 aut.</sZ>
</inist:fA14>
<country>République tchèque</country>
<placeName><settlement type="city">Prague</settlement>
<region type="région" nuts="2">Bohême centrale</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Potzsch, Simone" sort="Potzsch, Simone" uniqKey="Potzsch S" first="Simone" last="Pötzsch">Simone Pötzsch</name>
<affiliation wicri:level="3"><inist:fA14 i1="25"><s1>Malformation Monitoring Saxony-Anhalt, Faculty of Medicine, Otto-von-Guericke University</s1>
<s2>Magdeburg</s2>
<s3>DEU</s3>
<sZ>27 aut.</sZ>
</inist:fA14>
<country>Allemagne</country>
<placeName><region type="land" nuts="2">Saxe-Anhalt</region>
<settlement type="city">Magdebourg</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Szabova, Elena" sort="Szabova, Elena" uniqKey="Szabova E" first="Elena" last="Szabova">Elena Szabova</name>
</author>
<author><name sortKey="Yevtushok, Lyubov" sort="Yevtushok, Lyubov" uniqKey="Yevtushok L" first="Lyubov" last="Yevtushok">Lyubov Yevtushok</name>
</author>
</analytic>
<series><title level="j" type="main">American journal of medical genetics. Part A</title>
<title level="j" type="abbreviated">Am. j. med. genet., Part A</title>
<idno type="ISSN">1552-4825</idno>
<imprint><date when="2007">2007</date>
</imprint>
</series>
</biblStruct>
</sourceDesc>
<seriesStmt><title level="j" type="main">American journal of medical genetics. Part A</title>
<title level="j" type="abbreviated">Am. j. med. genet., Part A</title>
<idno type="ISSN">1552-4825</idno>
</seriesStmt>
</fileDesc>
<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Abdominal wall</term>
<term>Gastrochisis</term>
<term>Malformation</term>
<term>Multiple</term>
</keywords>
<keywords scheme="Pascal" xml:lang="fr"><term>Gastroschisis</term>
<term>Multiple</term>
<term>Malformation</term>
<term>Paroi abdominale</term>
</keywords>
</textClass>
</profileDesc>
</teiHeader>
<front><div type="abstract" xml:lang="en">Our objective was to evaluate the frequency and type of malformations associated with gastroschisis in a large pool of international data, to identify malformation patterns, and to evaluate the role of maternal age in non-isolated cases. Case-by-case information from 24 registries, all members of the International Clearinghouse for Birth Defects Surveillance and Research (ICBDSR), were evaluated. After the exclusion of other abdominal wall defects cases were classified as: (a) isolated; (b) recognizable syndrome, chromosomal or not; (c) multiple congenital anomalies (MCA). Our results showed that out of 3,322 total cases 469 non-isolated cases were registered (14.1%); 41 chromosomal syndromes, 24 other syndromes, and 404 MCA. Among MCA four groups of anomalies were most frequent: CNS (4.5%), cardiovascular (2.5%), limb (2.2%), and kidney anomalies (1.9%). No similar patterns emerged except two patterns resembling limb-body wall complex and OEIS. In both of them the gastroschisis could he however misclassified. Chromosomal trisomies and possibly non-syndromic MCA are associated with an older maternal age more than isolated cases. On consideration of our data and the most valid micelle published in the literature, the best estimate of the proportion of gastroschisis associated with major unrelated defects is about 10%, with a few cases associated to recognizable syndromes. Recognized syndromes with gastroschisis seem to be so exceptional that the well documented and validated cases are worth being published as interesting case report. An appropriate case definition in etiological studies should include only isolated gastroschisis after an appropriate definition of isolated and non-isolated cases and a thorough case-hy-case review.</div>
</front>
</TEI>
<affiliations><list><country><li>Allemagne</li>
<li>Australie</li>
<li>Brésil</li>
<li>Canada</li>
<li>Chili</li>
<li>Espagne</li>
<li>France</li>
<li>Hongrie</li>
<li>Irlande (pays)</li>
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<li>Italie</li>
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<li>Mexique</li>
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<li>Suède</li>
<li>États-Unis</li>
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<li>Californie</li>
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<li>Hongrie centrale</li>
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<tree><noCountry><name sortKey="Szabova, Elena" sort="Szabova, Elena" uniqKey="Szabova E" first="Elena" last="Szabova">Elena Szabova</name>
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<country name="États-Unis"><region name="Utah"><name sortKey="Opitz, John M" sort="Opitz, John M" uniqKey="Opitz J" first="John M." last="Opitz">John M. Opitz</name>
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<name sortKey="Harris, John" sort="Harris, John" uniqKey="Harris J" first="John" last="Harris">John Harris</name>
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<country name="Italie"><region name="Latium"><name sortKey="Mastroiacovo, Pierpaolo" sort="Mastroiacovo, Pierpaolo" uniqKey="Mastroiacovo P" first="Pierpaolo" last="Mastroiacovo">Pierpaolo Mastroiacovo</name>
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<country name="Brésil"><noRegion><name sortKey="Castilla, Eduardo E" sort="Castilla, Eduardo E" uniqKey="Castilla E" first="Eduardo E." last="Castilla">Eduardo E. Castilla</name>
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<country name="Australie"><noRegion><name sortKey="Halliday, Jane" sort="Halliday, Jane" uniqKey="Halliday J" first="Jane" last="Halliday">Jane Halliday</name>
</noRegion>
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<country name="Malte"><noRegion><name sortKey="Gatt, Miriam" sort="Gatt, Miriam" uniqKey="Gatt M" first="Miriam" last="Gatt">Miriam Gatt</name>
</noRegion>
</country>
<country name="Suède"><noRegion><name sortKey="Anneren, Goran" sort="Anneren, Goran" uniqKey="Anneren G" first="Göran" last="Anneren">Göran Anneren</name>
</noRegion>
</country>
<country name="Chili"><noRegion><name sortKey="Aurora Canessa, M" sort="Aurora Canessa, M" uniqKey="Aurora Canessa M" first="M." last="Aurora Canessa">M. Aurora Canessa</name>
</noRegion>
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<country name="Canada"><noRegion><name sortKey="Danderfer, Ron" sort="Danderfer, Ron" uniqKey="Danderfer R" first="Ron" last="Danderfer">Ron Danderfer</name>
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<name sortKey="Lowry, R Brian" sort="Lowry, R Brian" uniqKey="Lowry R" first="R. Brian" last="Lowry">R. Brian Lowry</name>
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<country name="République populaire de Chine"><noRegion><name sortKey="Zhu Li" sort="Zhu Li" uniqKey="Zhu Li" last="Zhu Li">ZHU LI</name>
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</country>
<country name="Irlande (pays)"><noRegion><name sortKey="Mcdonell, Robert" sort="Mcdonell, Robert" uniqKey="Mcdonell R" first="Robert" last="Mcdonell">Robert Mcdonell</name>
</noRegion>
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<country name="Israël"><noRegion><name sortKey="Mcrlob, Paul" sort="Mcrlob, Paul" uniqKey="Mcrlob P" first="Paul" last="Mcrlob">Paul Mcrlob</name>
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<country name="Hongrie"><region name="Hongrie centrale"><name sortKey="Metneki, Julia" sort="Metneki, Julia" uniqKey="Metneki J" first="Julia" last="Metneki">Julia Metneki</name>
</region>
</country>
<country name="Mexique"><noRegion><name sortKey="Mutchinick, Osvaldo" sort="Mutchinick, Osvaldo" uniqKey="Mutchinick O" first="Osvaldo" last="Mutchinick">Osvaldo Mutchinick</name>
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   |texte=   Gastroschisis and associated defects : An international study. Commentary : Gastroschisis
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	Serveur d'exploration sur les relations entre la France et l'Australie
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Gastroschisis and associated defects : An international study. Commentary : Gastroschisis

Gastroschisis and associated defects : An international study. Commentary : Gastroschisis

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