Absence of limbs and gross body wall defects: An epidemiological study of related rare malformation conditions
Identifieur interne : 001A68 ( Istex/Corpus ); précédent : 001A67; suivant : 001A69Absence of limbs and gross body wall defects: An epidemiological study of related rare malformation conditions
Auteurs : Pierpaolo Mastroiacovo ; Bengt K Llén ; Lisbeth B. Knudsen ; Paul A. L. Lancaster ; Eduardo E. Castilla ; Osvaldo Mutchinick ; Elisabeth RobertSource :
- Teratology [ 0040-3709 ] ; 1992-11.
English descriptors
- KwdEn :
- Abdominal defect, Agenesis, Amelia, Amniotic, Amniotic band, Amniotic bands, Anal atresia, Annual births, Birth defects monitoring systems, Birth weight, Bladder exstrophy, Body wall, Body wall defect, Body wall defects, Caudal regression, Cleft palate, Confidence interval, Confidence intervals, Congenital, Congenital malformations, Defect, Diaphragmatic hernia, Different programs, Different types, Embryonic disk, Epidemiological study, First week, Gastroschisis, Gross body wall defect, Gross body wall defects, Gross body wall defects andlor amelia, Gross body wall defects table, Gross body wall infants, Heterogeneity, Infant, Infant groups, International clearinghouse, Kallen, Limb, Limb amelia, Limb defects, Limb morphogenesis, Limb reduction defect, Limb reduction defects, Limb reductions, Lower limb amelia, Malformation, Mastroiacovo, Monitoring system, Nonlimb, Nonlimb malformations, Observable malformations, Odds ratio, Odds ratios, Omphalocele, Other amelia, Other limb reduction, Other limb reduction defects, Other nonlimb malformations, Other types, Significant heterogeneity, Subgroup, Such infants, Such malformations, Total rate, Twinning, Umbilical cord, Wall defect, Wall defects.
- Teeft :
- Abdominal defect, Agenesis, Amelia, Amniotic, Amniotic band, Amniotic bands, Anal atresia, Annual births, Birth defects monitoring systems, Birth weight, Bladder exstrophy, Body wall, Body wall defect, Body wall defects, Caudal regression, Cleft palate, Confidence interval, Confidence intervals, Congenital, Congenital malformations, Defect, Diaphragmatic hernia, Different programs, Different types, Embryonic disk, Epidemiological study, First week, Gastroschisis, Gross body wall defect, Gross body wall defects, Gross body wall defects andlor amelia, Gross body wall defects table, Gross body wall infants, Heterogeneity, Infant, Infant groups, International clearinghouse, Kallen, Limb, Limb amelia, Limb defects, Limb morphogenesis, Limb reduction defect, Limb reduction defects, Limb reductions, Lower limb amelia, Malformation, Mastroiacovo, Monitoring system, Nonlimb, Nonlimb malformations, Observable malformations, Odds ratio, Odds ratios, Omphalocele, Other amelia, Other limb reduction, Other limb reduction defects, Other nonlimb malformations, Other types, Significant heterogeneity, Subgroup, Such infants, Such malformations, Total rate, Twinning, Umbilical cord, Wall defect, Wall defects.
Abstract
The study is based on almost 10 million births and reports on 215 infants with two unusual malformations: amelia and gross body wall defect. Amelia without body wall defect was present in 116 cases, 67 had body wall defects without amelia, and 32 had both. The total rate was 2.2 per 100,000 births. The infants were divided into five mutually exclusive groups. There were 40 infants (0.4 per 100,000) with agenesis of the body stalk, 18 with amelia and other types of gross body wall defects (0.2 per 100,000), 56 with amelia and malformations other than gross body wall defects (0.6 per 100,000), 41 with amelia (with or without other limb reduction defects) but no nonlimb malformations (0.4 per 100,000), and 60 infants with gross body wall defects of a type other than agenesis of body stalk and without amelia (0.6 per 100,000). A weak trend of decreasing prevalence of these malformations was found during the observation period. Infants with agenesis of the body stalk and infants with amelia combined with other types of gross body wall defects occurred at an increased rate in infants of young women. This maternal age effect is also found with gastroschisis, but not with omphalocele, and may indicate etiological or pathogenetic similarities between gastroschisis and the two former groups of defect. In infants with amelia, additional limb reduction defects could be of any type: transverse, longitudinal, or intercalary. Therefore, amelia may be the end result of different types of disturbances of limb morphogenesis. There was an increased rate of twinning. The relationship with amniotic band syndrome is discussed. © 1992 Wiley‐Liss, Inc.
Url:
DOI: 10.1002/tera.1420460510
Links to Exploration step
ISTEX:8D4FC85450A8D1FAC4E21173D677FB7163D67F30Le document en format XML
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Knudsen</name><affiliation><mods:affiliation>National Board of Health, Copenhagen, Denmark</mods:affiliation></affiliation></author><author><name sortKey="Lancaster, Paul A L" sort="Lancaster, Paul A L" uniqKey="Lancaster P" first="Paul A. L." last="Lancaster">Paul A. L. Lancaster</name><affiliation><mods:affiliation>AIH National Perinatal Statistics Unit, Sydney, Australia</mods:affiliation></affiliation></author><author><name sortKey="Castilla, Eduardo E" sort="Castilla, Eduardo E" uniqKey="Castilla E" first="Eduardo E." last="Castilla">Eduardo E. 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Knudsen</name><affiliation><mods:affiliation>National Board of Health, Copenhagen, Denmark</mods:affiliation></affiliation></author><author><name sortKey="Lancaster, Paul A L" sort="Lancaster, Paul A L" uniqKey="Lancaster P" first="Paul A. L." last="Lancaster">Paul A. L. Lancaster</name><affiliation><mods:affiliation>AIH National Perinatal Statistics Unit, Sydney, Australia</mods:affiliation></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><mods:affiliation>ECLAMC/Genetica/Fiocruz, Rio de Janeiro, Brazil, IMBICE, La Plata, Argentina</mods:affiliation></affiliation></author><author><name sortKey="Mutchinick, Osvaldo" sort="Mutchinick, Osvaldo" uniqKey="Mutchinick O" first="Osvaldo" last="Mutchinick">Osvaldo Mutchinick</name><affiliation><mods:affiliation>RYVEMCE, Instituto Nacional de Nutrición Salvador Zubiran, Mexico DF, Mexico</mods:affiliation></affiliation></author><author><name sortKey="Robert, Elisabeth" sort="Robert, Elisabeth" uniqKey="Robert E" first="Elisabeth" last="Robert">Elisabeth Robert</name><affiliation><mods:affiliation>Institut Européen des Génomutations, Lyon, France</mods:affiliation></affiliation></author></analytic><monogr></monogr><series><title level="j" type="main">Teratology</title><title level="j" type="alt">TERATOLOGY</title><idno type="ISSN">0040-3709</idno><idno type="eISSN">1096-9926</idno><imprint><biblScope unit="vol">46</biblScope><biblScope unit="issue">5</biblScope><biblScope unit="page" from="455">455</biblScope><biblScope unit="page" to="464">464</biblScope><biblScope unit="page-count">10</biblScope><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>New York</pubPlace><date type="published" when="1992-11">1992-11</date></imprint><idno type="ISSN">0040-3709</idno></series></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0040-3709</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Abdominal defect</term><term>Agenesis</term><term>Amelia</term><term>Amniotic</term><term>Amniotic band</term><term>Amniotic bands</term><term>Anal atresia</term><term>Annual births</term><term>Birth defects monitoring systems</term><term>Birth weight</term><term>Bladder exstrophy</term><term>Body wall</term><term>Body wall defect</term><term>Body wall defects</term><term>Caudal regression</term><term>Cleft palate</term><term>Confidence interval</term><term>Confidence intervals</term><term>Congenital</term><term>Congenital malformations</term><term>Defect</term><term>Diaphragmatic hernia</term><term>Different programs</term><term>Different types</term><term>Embryonic disk</term><term>Epidemiological study</term><term>First week</term><term>Gastroschisis</term><term>Gross body wall defect</term><term>Gross body wall defects</term><term>Gross body wall defects andlor amelia</term><term>Gross body wall defects table</term><term>Gross body wall infants</term><term>Heterogeneity</term><term>Infant</term><term>Infant groups</term><term>International clearinghouse</term><term>Kallen</term><term>Limb</term><term>Limb amelia</term><term>Limb defects</term><term>Limb morphogenesis</term><term>Limb reduction defect</term><term>Limb reduction defects</term><term>Limb reductions</term><term>Lower limb amelia</term><term>Malformation</term><term>Mastroiacovo</term><term>Monitoring system</term><term>Nonlimb</term><term>Nonlimb malformations</term><term>Observable malformations</term><term>Odds ratio</term><term>Odds ratios</term><term>Omphalocele</term><term>Other amelia</term><term>Other limb reduction</term><term>Other limb reduction defects</term><term>Other nonlimb malformations</term><term>Other types</term><term>Significant heterogeneity</term><term>Subgroup</term><term>Such infants</term><term>Such malformations</term><term>Total rate</term><term>Twinning</term><term>Umbilical cord</term><term>Wall defect</term><term>Wall defects</term></keywords><keywords scheme="Teeft" xml:lang="en"><term>Abdominal defect</term><term>Agenesis</term><term>Amelia</term><term>Amniotic</term><term>Amniotic band</term><term>Amniotic bands</term><term>Anal atresia</term><term>Annual births</term><term>Birth defects monitoring systems</term><term>Birth weight</term><term>Bladder exstrophy</term><term>Body wall</term><term>Body wall defect</term><term>Body wall defects</term><term>Caudal regression</term><term>Cleft palate</term><term>Confidence interval</term><term>Confidence intervals</term><term>Congenital</term><term>Congenital malformations</term><term>Defect</term><term>Diaphragmatic hernia</term><term>Different programs</term><term>Different types</term><term>Embryonic disk</term><term>Epidemiological study</term><term>First week</term><term>Gastroschisis</term><term>Gross body wall defect</term><term>Gross body wall defects</term><term>Gross body wall defects andlor amelia</term><term>Gross body wall defects table</term><term>Gross body wall infants</term><term>Heterogeneity</term><term>Infant</term><term>Infant groups</term><term>International clearinghouse</term><term>Kallen</term><term>Limb</term><term>Limb amelia</term><term>Limb defects</term><term>Limb morphogenesis</term><term>Limb reduction defect</term><term>Limb reduction defects</term><term>Limb reductions</term><term>Lower limb amelia</term><term>Malformation</term><term>Mastroiacovo</term><term>Monitoring system</term><term>Nonlimb</term><term>Nonlimb malformations</term><term>Observable malformations</term><term>Odds ratio</term><term>Odds ratios</term><term>Omphalocele</term><term>Other amelia</term><term>Other limb reduction</term><term>Other limb reduction defects</term><term>Other nonlimb malformations</term><term>Other types</term><term>Significant heterogeneity</term><term>Subgroup</term><term>Such infants</term><term>Such malformations</term><term>Total rate</term><term>Twinning</term><term>Umbilical cord</term><term>Wall defect</term><term>Wall defects</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">The study is based on almost 10 million births and reports on 215 infants with two unusual malformations: amelia and gross body wall defect. Amelia without body wall defect was present in 116 cases, 67 had body wall defects without amelia, and 32 had both. The total rate was 2.2 per 100,000 births. The infants were divided into five mutually exclusive groups. There were 40 infants (0.4 per 100,000) with agenesis of the body stalk, 18 with amelia and other types of gross body wall defects (0.2 per 100,000), 56 with amelia and malformations other than gross body wall defects (0.6 per 100,000), 41 with amelia (with or without other limb reduction defects) but no nonlimb malformations (0.4 per 100,000), and 60 infants with gross body wall defects of a type other than agenesis of body stalk and without amelia (0.6 per 100,000). A weak trend of decreasing prevalence of these malformations was found during the observation period. Infants with agenesis of the body stalk and infants with amelia combined with other types of gross body wall defects occurred at an increased rate in infants of young women. This maternal age effect is also found with gastroschisis, but not with omphalocele, and may indicate etiological or pathogenetic similarities between gastroschisis and the two former groups of defect. In infants with amelia, additional limb reduction defects could be of any type: transverse, longitudinal, or intercalary. Therefore, amelia may be the end result of different types of disturbances of limb morphogenesis. There was an increased rate of twinning. The relationship with amniotic band syndrome is discussed. © 1992 Wiley‐Liss, Inc.</div></front></TEI><istex><corpusName>wiley</corpusName><keywords><teeft><json:string>malformation</json:string><json:string>agenesis</json:string><json:string>amelia</json:string><json:string>gross body wall defect</json:string><json:string>defect</json:string><json:string>subgroup</json:string><json:string>nonlimb</json:string><json:string>body wall defect</json:string><json:string>omphalocele</json:string><json:string>gastroschisis</json:string><json:string>amniotic</json:string><json:string>mastroiacovo</json:string><json:string>gross body wall defects</json:string><json:string>body wall defects</json:string><json:string>twinning</json:string><json:string>heterogeneity</json:string><json:string>kallen</json:string><json:string>total rate</json:string><json:string>congenital malformations</json:string><json:string>limb reduction defects</json:string><json:string>umbilical cord</json:string><json:string>congenital</json:string><json:string>limb</json:string><json:string>limb amelia</json:string><json:string>nonlimb malformations</json:string><json:string>body wall</json:string><json:string>infant</json:string><json:string>such infants</json:string><json:string>limb reduction defect</json:string><json:string>amniotic band</json:string><json:string>anal atresia</json:string><json:string>annual births</json:string><json:string>different types</json:string><json:string>international clearinghouse</json:string><json:string>other limb reduction</json:string><json:string>odds ratios</json:string><json:string>wall defects</json:string><json:string>odds ratio</json:string><json:string>abdominal defect</json:string><json:string>gross body wall defects table</json:string><json:string>monitoring system</json:string><json:string>birth weight</json:string><json:string>epidemiological study</json:string><json:string>first week</json:string><json:string>confidence intervals</json:string><json:string>wall defect</json:string><json:string>diaphragmatic hernia</json:string><json:string>birth defects monitoring systems</json:string><json:string>such malformations</json:string><json:string>limb morphogenesis</json:string><json:string>different programs</json:string><json:string>gross body wall infants</json:string><json:string>other limb reduction defects</json:string><json:string>other types</json:string><json:string>significant heterogeneity</json:string><json:string>lower limb amelia</json:string><json:string>confidence interval</json:string><json:string>infant groups</json:string><json:string>other amelia</json:string><json:string>other nonlimb malformations</json:string><json:string>bladder exstrophy</json:string><json:string>caudal regression</json:string><json:string>limb reductions</json:string><json:string>limb defects</json:string><json:string>observable malformations</json:string><json:string>cleft palate</json:string><json:string>amniotic bands</json:string><json:string>embryonic disk</json:string><json:string>gross body wall defects andlor amelia</json:string></teeft></keywords><author><json:item><name>Pierpaolo Mastroiacovo</name><affiliations><json:string>IPIMC, Servizio Epidemiologia e Clinica Difetti Congeniti, Rome, Italy</json:string></affiliations></json:item><json:item><name>Bengt Källén</name><affiliations><json:string>Department of Embryology, University of Lund, Sweden</json:string></affiliations></json:item><json:item><name>Lisbeth B. Knudsen</name><affiliations><json:string>National Board of Health, Copenhagen, Denmark</json:string></affiliations></json:item><json:item><name>Paul A. L. Lancaster</name><affiliations><json:string>AIH National Perinatal Statistics Unit, Sydney, Australia</json:string></affiliations></json:item><json:item><name>Eduardo E. Castilla</name><affiliations><json:string>ECLAMC/Genetica/Fiocruz, Rio de Janeiro, Brazil, IMBICE, La Plata, Argentina</json:string></affiliations></json:item><json:item><name>Osvaldo Mutchinick</name><affiliations><json:string>RYVEMCE, Instituto Nacional de Nutrición Salvador Zubiran, Mexico DF, Mexico</json:string></affiliations></json:item><json:item><name>Elisabeth Robert</name><affiliations><json:string>Institut Européen des Génomutations, Lyon, France</json:string></affiliations></json:item></author><articleId><json:string>TERA1420460510</json:string></articleId><arkIstex>ark:/67375/WNG-610LG04Q-N</arkIstex><language><json:string>eng</json:string></language><originalGenre><json:string>article</json:string></originalGenre><abstract>The study is based on almost 10 million births and reports on 215 infants with two unusual malformations: amelia and gross body wall defect. Amelia without body wall defect was present in 116 cases, 67 had body wall defects without amelia, and 32 had both. The total rate was 2.2 per 100,000 births. The infants were divided into five mutually exclusive groups. There were 40 infants (0.4 per 100,000) with agenesis of the body stalk, 18 with amelia and other types of gross body wall defects (0.2 per 100,000), 56 with amelia and malformations other than gross body wall defects (0.6 per 100,000), 41 with amelia (with or without other limb reduction defects) but no nonlimb malformations (0.4 per 100,000), and 60 infants with gross body wall defects of a type other than agenesis of body stalk and without amelia (0.6 per 100,000). A weak trend of decreasing prevalence of these malformations was found during the observation period. Infants with agenesis of the body stalk and infants with amelia combined with other types of gross body wall defects occurred at an increased rate in infants of young women. This maternal age effect is also found with gastroschisis, but not with omphalocele, and may indicate etiological or pathogenetic similarities between gastroschisis and the two former groups of defect. In infants with amelia, additional limb reduction defects could be of any type: transverse, longitudinal, or intercalary. Therefore, amelia may be the end result of different types of disturbances of limb morphogenesis. There was an increased rate of twinning. The relationship with amniotic band syndrome is discussed. © 1992 Wiley‐Liss, Inc.</abstract><qualityIndicators><score>9.939</score><pdfWordCount>4939</pdfWordCount><pdfCharCount>31096</pdfCharCount><pdfVersion>1.3</pdfVersion><pdfPageCount>10</pdfPageCount><pdfPageSize>486 x 720 pts</pdfPageSize><refBibsNative>true</refBibsNative><abstractWordCount>268</abstractWordCount><abstractCharCount>1656</abstractCharCount><keywordCount>0</keywordCount></qualityIndicators><title>Absence of limbs and gross body wall defects: An epidemiological study of related rare malformation conditions</title><pmid><json:string>1462250</json:string></pmid><genre><json:string>article</json:string></genre><host><title>Teratology</title><language><json:string>unknown</json:string></language><doi><json:string>10.1002/(ISSN)1096-9926</json:string></doi><issn><json:string>0040-3709</json:string></issn><eissn><json:string>1096-9926</json:string></eissn><publisherId><json:string>TERA</json:string></publisherId><volume>46</volume><issue>5</issue><pages><first>455</first><last>464</last><total>10</total></pages><genre><json:string>journal</json:string></genre><subject><json:item><value>Epidemiology</value></json:item></subject></host><namedEntities><unitex><date><json:string>1992</json:string></date><geogName></geogName><orgName><json:string>ICBDMS, International Clearinghouse for Birth Defects Monitoring Svstems</json:string><json:string>National Board of Health</json:string><json:string>CYTEL Software Corp.</json:string><json:string>AIH National Perinatal Statistics Unit, Sydney, Australia</json:string><json:string>ICBDMS, International Clearinghouse for Birth Defects Monitoring Systems</json:string><json:string>Mexico OF, Mexico</json:string><json:string>Wiley-Liss, Inc.</json:string><json:string>Birth Defects Monitoring Systems</json:string><json:string>Brazil, IMBICE, La Plata, Argentina</json:string><json:string>LISS, INC.</json:string></orgName><orgName_funder></orgName_funder><orgName_provider></orgName_provider><persName><json:string>P. Merlob</json:string><json:string>I.M. Orioli</json:string><json:string>R. Romero</json:string><json:string>R.A. Franciosi</json:string><json:string>C. Francannet</json:string><json:string>D.H. Hinke</json:string><json:string>J.E. Paz</json:string><json:string>M.A. Ferguson-Smith</json:string><json:string>L. Gallagher</json:string><json:string>J. Epidemiol</json:string><json:string>T.M.Z. Rahmani</json:string><json:string>M. Grunebaum</json:string><json:string>W. Haenszel</json:string><json:string>P.A. Baird</json:string><json:string>E.E. Castilla</json:string><json:string>J.M. Robert</json:string><json:string>C. Curry</json:string><json:string>Van Allen</json:string><json:string>D.D. Weaver</json:string><json:string>J. Pediatr</json:string><json:string>B.D. Hall</json:string><json:string>J. Winberg</json:string><json:string>J. Mullinare</json:string><json:string>M. Desai</json:string><json:string>P. Mastroiacovo</json:string><json:string>J. Dis</json:string><json:string>J. Med</json:string><json:string>P.A.M. Raine</json:string><json:string>B. Epidemiology</json:string><json:string>J. Daling</json:string><json:string>H.W. Oechler</json:string><json:string>S. Milham</json:string><json:string>A. Ghidini</json:string><json:string>K. Lundkvist</json:string><json:string>J. Gynecol</json:string><json:string>A.D. Segura</json:string><json:string>V. Babinsky</json:string><json:string>I. Pathogenesis</json:string><json:string>Z. Kinderchir</json:string><json:string>D.W. Smith</json:string><json:string>A. Czeizel</json:string><json:string>J. Obst</json:string><json:string>M.J. Bull</json:string><json:string>E. Robert</json:string><json:string>A.A.M. Gibson</json:string><json:string>A.L. Scioscia</json:string><json:string>J.C. Hobbins</json:string><json:string>J. Nat</json:string><json:string>K.L. Jones</json:string><json:string>L.B. Knudsen</json:string><json:string>W. Lene</json:string><json:string>M.L. Martinez-Frias</json:string></persName><placeName><json:string>Australia</json:string><json:string>Mexico</json:string><json:string>Canada</json:string><json:string>American</json:string><json:string>America</json:string><json:string>Amsterdam</json:string><json:string>Denmark</json:string><json:string>Rome</json:string><json:string>Lancaster</json:string><json:string>York</json:string><json:string>MA</json:string><json:string>France</json:string><json:string>Copenhagen</json:string><json:string>Cambridge</json:string><json:string>P.A.</json:string><json:string>Italy</json:string><json:string>Sweden</json:string><json:string>Lyon</json:string></placeName><ref_url></ref_url><ref_bibl><json:string>Van Allen et al.</json:string><json:string>Russel et al.</json:string><json:string>Mann et al.</json:string><json:string>Castilla et al.</json:string><json:string>Bod et al.</json:string><json:string>Mutchinick et al.</json:string><json:string>Robert et al.</json:string><json:string>Kallen et al.</json:string><json:string>Lockwood et al.</json:string><json:string>Sweden 1965</json:string><json:string>Litwin et al.</json:string><json:string>Garza et al.</json:string><json:string>Goldbaum et al.</json:string><json:string>Higginbottom et al.</json:string><json:string>Hungary 1975</json:string><json:string>Tang et al.</json:string><json:string>Moerman et al.</json:string></ref_bibl><bibl></bibl></unitex></namedEntities><ark><json:string>ark:/67375/WNG-610LG04Q-N</json:string></ark><categories><wos></wos><scienceMetrix><json:string>1 - health sciences</json:string><json:string>2 - biomedical research</json:string><json:string>3 - genetics & heredity</json:string></scienceMetrix><scopus><json:string>1 - Physical Sciences</json:string><json:string>2 - Environmental Science</json:string><json:string>3 - Health, Toxicology and Mutagenesis</json:string><json:string>1 - Life Sciences</json:string><json:string>2 - Biochemistry, Genetics and Molecular Biology</json:string><json:string>3 - Developmental Biology</json:string><json:string>1 - Life Sciences</json:string><json:string>2 - Pharmacology, Toxicology and Pharmaceutics</json:string><json:string>3 - Toxicology</json:string><json:string>1 - Health Sciences</json:string><json:string>2 - Medicine</json:string><json:string>3 - Embryology</json:string></scopus><inist><json:string>1 - sciences appliquees, technologies et medecines</json:string><json:string>2 - sciences biologiques et medicales</json:string><json:string>3 - sciences medicales</json:string></inist></categories><publicationDate>1992</publicationDate><copyrightDate>1992</copyrightDate><doi><json:string>10.1002/tera.1420460510</json:string></doi><id>8D4FC85450A8D1FAC4E21173D677FB7163D67F30</id><score>1</score><fulltext><json:item><extension>pdf</extension><original>true</original><mimetype>application/pdf</mimetype><uri>https://api.istex.fr/document/8D4FC85450A8D1FAC4E21173D677FB7163D67F30/fulltext/pdf</uri></json:item><json:item><extension>zip</extension><original>false</original><mimetype>application/zip</mimetype><uri>https://api.istex.fr/document/8D4FC85450A8D1FAC4E21173D677FB7163D67F30/fulltext/zip</uri></json:item><istex:fulltextTEI uri="https://api.istex.fr/document/8D4FC85450A8D1FAC4E21173D677FB7163D67F30/fulltext/tei"><teiHeader><fileDesc><titleStmt><title level="a" type="main" xml:lang="en">Absence of limbs and gross body wall defects: An epidemiological study of related rare malformation conditions</title></titleStmt><publicationStmt><authority>ISTEX</authority><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>New York</pubPlace><availability><licence>Copyright © 1992 Wiley‐Liss, Inc., A Wiley Company</licence></availability><date type="published" when="1992-11"></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">Absence of limbs and gross body wall defects: An epidemiological study of related rare malformation conditions</title><title level="a" type="short" xml:lang="en">AMELIA AND GROSS BODY WALL DEFECTS</title><author xml:id="author-0000"><persName><forename type="first">Pierpaolo</forename><surname>Mastroiacovo</surname></persName><affiliation>IPIMC, Servizio Epidemiologia e Clinica Difetti Congeniti, Rome, Italy<address><country key="IT"></country></address></affiliation></author><author xml:id="author-0001"><persName><forename type="first">Bengt</forename><surname>Källén</surname></persName><affiliation>Department of Embryology, University of Lund, Sweden<address><country key="SE"></country></address></affiliation></author><author xml:id="author-0002"><persName><forename type="first">Lisbeth B.</forename><surname>Knudsen</surname></persName><affiliation>National Board of Health, Copenhagen, Denmark<address><country key="DK"></country></address></affiliation></author><author xml:id="author-0003"><persName><forename type="first">Paul A. L.</forename><surname>Lancaster</surname></persName><affiliation>AIH National Perinatal Statistics Unit, Sydney, Australia<address><country key="AU"></country></address></affiliation></author><author xml:id="author-0004"><persName><forename type="first">Eduardo E.</forename><surname>Castilla</surname></persName><affiliation>ECLAMC/Genetica/Fiocruz, Rio de Janeiro, Brazil, IMBICE, La Plata, Argentina<address><country key="AR"></country></address></affiliation></author><author xml:id="author-0005"><persName><forename type="first">Osvaldo</forename><surname>Mutchinick</surname></persName><affiliation>RYVEMCE, Instituto Nacional de Nutrición Salvador Zubiran, Mexico DF, Mexico<address><country key="MX"></country></address></affiliation></author><author xml:id="author-0006"><persName><forename type="first">Elisabeth</forename><surname>Robert</surname></persName><affiliation>Institut Européen des Génomutations, Lyon, France<address><country key="FR"></country></address></affiliation></author><idno type="istex">8D4FC85450A8D1FAC4E21173D677FB7163D67F30</idno><idno type="ark">ark:/67375/WNG-610LG04Q-N</idno><idno type="DOI">10.1002/tera.1420460510</idno><idno type="unit">TERA1420460510</idno><idno type="toTypesetVersion">file:TERA.TERA1420460510.pdf</idno></analytic><monogr><title level="j" type="main">Teratology</title><title level="j" type="alt">TERATOLOGY</title><idno type="pISSN">0040-3709</idno><idno type="eISSN">1096-9926</idno><idno type="book-DOI">10.1002/(ISSN)1096-9926</idno><idno type="book-part-DOI">10.1002/tera.v46:5</idno><idno type="product">TERA</idno><imprint><biblScope unit="vol">46</biblScope><biblScope unit="issue">5</biblScope><biblScope unit="page" from="455">455</biblScope><biblScope unit="page" to="464">464</biblScope><biblScope unit="page-count">10</biblScope><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>New York</pubPlace><date type="published" when="1992-11"></date></imprint></monogr></biblStruct></sourceDesc></fileDesc><profileDesc><abstract xml:lang="en" style="main"><head>Abstract</head><p>The study is based on almost 10 million births and reports on 215 infants with two unusual malformations: amelia and gross body wall defect. Amelia without body wall defect was present in 116 cases, 67 had body wall defects without amelia, and 32 had both. The total rate was 2.2 per 100,000 births. The infants were divided into five mutually exclusive groups. There were 40 infants (0.4 per 100,000) with agenesis of the body stalk, 18 with amelia and other types of gross body wall defects (0.2 per 100,000), 56 with amelia and malformations other than gross body wall defects (0.6 per 100,000), 41 with amelia (with or without other limb reduction defects) but no nonlimb malformations (0.4 per 100,000), and 60 infants with gross body wall defects of a type other than agenesis of body stalk and without amelia (0.6 per 100,000). A weak trend of decreasing prevalence of these malformations was found during the observation period. Infants with agenesis of the body stalk and infants with amelia combined with other types of gross body wall defects occurred at an increased rate in infants of young women. This maternal age effect is also found with gastroschisis, but not with omphalocele, and may indicate etiological or pathogenetic similarities between gastroschisis and the two former groups of defect. In infants with amelia, additional limb reduction defects could be of any type: transverse, longitudinal, or intercalary. Therefore, amelia may be the end result of different types of disturbances of limb morphogenesis. There was an increased rate of twinning. The relationship with amniotic band syndrome is discussed. © 1992 Wiley‐Liss, Inc.</p></abstract><textClass><keywords rend="articleCategory"><term>Epidemiology</term></keywords><keywords rend="tocHeading1"><term>Epidemiology</term></keywords></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/8D4FC85450A8D1FAC4E21173D677FB7163D67F30/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)1096-9926</doi><issn type="print">0040-3709</issn><issn type="electronic">1096-9926</issn><idGroup><id type="product" value="TERA"></id></idGroup><titleGroup><title type="main" xml:lang="en" sort="TERATOLOGY">Teratology</title><title type="short">Teratology</title></titleGroup></publicationMeta><publicationMeta level="part" position="50"><doi origin="wiley" registered="yes">10.1002/tera.v46:5</doi><numberingGroup><numbering type="journalVolume" number="46">46</numbering><numbering type="journalIssue">5</numbering></numberingGroup><coverDate startDate="1992-11">November 1992</coverDate></publicationMeta><publicationMeta level="unit" type="article" position="10" status="forIssue"><doi origin="wiley" registered="yes">10.1002/tera.1420460510</doi><idGroup><id type="unit" value="TERA1420460510"></id></idGroup><countGroup><count type="pageTotal" number="10"></count></countGroup><titleGroup><title type="articleCategory">Epidemiology</title><title type="tocHeading1">Epidemiology</title></titleGroup><copyright ownership="publisher">Copyright © 1992 Wiley‐Liss, Inc., A Wiley Company</copyright><eventGroup><event type="manuscriptReceived" date="1992-02-25"></event><event type="manuscriptAccepted" date="1992-07-10"></event><event type="firstOnline" date="2005-06-02"></event><event type="publishedOnlineFinalForm" date="2005-06-02"></event><event type="xmlConverted" agent="Converter:JWSART34_TO_WML3G version:2.3.2 mode:FullText source:HeaderRef result:HeaderRef" date="2010-03-01"></event><event type="xmlConverted" agent="Converter:WILEY_ML3G_TO_WILEY_ML3GV2 version:3.8.8" date="2014-02-10"></event><event type="xmlConverted" agent="Converter:WML3G_To_WML3G version:4.1.7 mode:FullText,remove_FC" date="2014-11-04"></event></eventGroup><numberingGroup><numbering type="pageFirst">455</numbering><numbering type="pageLast">464</numbering></numberingGroup><linkGroup><link type="toTypesetVersion" href="file:TERA.TERA1420460510.pdf"></link></linkGroup></publicationMeta><contentMeta><countGroup><count type="figureTotal" number="2"></count><count type="tableTotal" number="4"></count><count type="referenceTotal" number="32"></count></countGroup><titleGroup><title type="main" xml:lang="en">Absence of limbs and gross body wall defects: An epidemiological study of related rare malformation conditions</title><title type="short" xml:lang="en">AMELIA AND GROSS BODY WALL DEFECTS</title></titleGroup><creators><creator xml:id="au1" creatorRole="author" affiliationRef="#af1"><personName><givenNames>Pierpaolo</givenNames><familyName>Mastroiacovo</familyName></personName></creator><creator xml:id="au2" creatorRole="author" affiliationRef="#af2"><personName><givenNames>Bengt</givenNames><familyName>Källén</familyName></personName></creator><creator xml:id="au3" creatorRole="author" affiliationRef="#af3"><personName><givenNames>Lisbeth B.</givenNames><familyName>Knudsen</familyName></personName></creator><creator xml:id="au4" creatorRole="author" affiliationRef="#af4"><personName><givenNames>Paul A. L.</givenNames><familyName>Lancaster</familyName></personName></creator><creator xml:id="au5" creatorRole="author" affiliationRef="#af5"><personName><givenNames>Eduardo E.</givenNames><familyName>Castilla</familyName></personName></creator><creator xml:id="au6" creatorRole="author" affiliationRef="#af6"><personName><givenNames>Osvaldo</givenNames><familyName>Mutchinick</familyName></personName></creator><creator xml:id="au7" creatorRole="author" affiliationRef="#af7"><personName><givenNames>Elisabeth</givenNames><familyName>Robert</familyName></personName></creator></creators><affiliationGroup><affiliation xml:id="af1" countryCode="IT" type="organization"><unparsedAffiliation>IPIMC, Servizio Epidemiologia e Clinica Difetti Congeniti, Rome, Italy</unparsedAffiliation></affiliation><affiliation xml:id="af2" countryCode="SE" type="organization"><unparsedAffiliation>Department of Embryology, University of Lund, Sweden</unparsedAffiliation></affiliation><affiliation xml:id="af3" countryCode="DK" type="organization"><unparsedAffiliation>National Board of Health, Copenhagen, Denmark</unparsedAffiliation></affiliation><affiliation xml:id="af4" countryCode="AU" type="organization"><unparsedAffiliation>AIH National Perinatal Statistics Unit, Sydney, Australia</unparsedAffiliation></affiliation><affiliation xml:id="af5" countryCode="AR" type="organization"><unparsedAffiliation>ECLAMC/Genetica/Fiocruz, Rio de Janeiro, Brazil, IMBICE, La Plata, Argentina</unparsedAffiliation></affiliation><affiliation xml:id="af6" countryCode="MX" type="organization"><unparsedAffiliation>RYVEMCE, Instituto Nacional de Nutrición Salvador Zubiran, Mexico DF, Mexico</unparsedAffiliation></affiliation><affiliation xml:id="af7" countryCode="FR" type="organization"><unparsedAffiliation>Institut Européen des Génomutations, Lyon, France</unparsedAffiliation></affiliation></affiliationGroup><abstractGroup><abstract type="main" xml:lang="en"><title type="main">Abstract</title><p>The study is based on almost 10 million births and reports on 215 infants with two unusual malformations: amelia and gross body wall defect. Amelia without body wall defect was present in 116 cases, 67 had body wall defects without amelia, and 32 had both. The total rate was 2.2 per 100,000 births. The infants were divided into five mutually exclusive groups. There were 40 infants (0.4 per 100,000) with agenesis of the body stalk, 18 with amelia and other types of gross body wall defects (0.2 per 100,000), 56 with amelia and malformations other than gross body wall defects (0.6 per 100,000), 41 with amelia (with or without other limb reduction defects) but no nonlimb malformations (0.4 per 100,000), and 60 infants with gross body wall defects of a type other than agenesis of body stalk and without amelia (0.6 per 100,000). A weak trend of decreasing prevalence of these malformations was found during the observation period. Infants with agenesis of the body stalk and infants with amelia combined with other types of gross body wall defects occurred at an increased rate in infants of young women. This maternal age effect is also found with gastroschisis, but not with omphalocele, and may indicate etiological or pathogenetic similarities between gastroschisis and the two former groups of defect. In infants with amelia, additional limb reduction defects could be of any type: transverse, longitudinal, or intercalary. Therefore, amelia may be the end result of different types of disturbances of limb morphogenesis. There was an increased rate of twinning. The relationship with amniotic band syndrome is discussed. © 1992 Wiley‐Liss, Inc.</p></abstract></abstractGroup></contentMeta></header></component></istex:document></istex:metadataXml><mods version="3.6"><titleInfo lang="en"><title>Absence of limbs and gross body wall defects: An epidemiological study of related rare malformation conditions</title></titleInfo><titleInfo type="abbreviated" lang="en"><title>AMELIA AND GROSS BODY WALL DEFECTS</title></titleInfo><titleInfo type="alternative" contentType="CDATA" lang="en"><title>Absence of limbs and gross body wall defects: An epidemiological study of related rare malformation conditions</title></titleInfo><name type="personal"><namePart type="given">Pierpaolo</namePart><namePart type="family">Mastroiacovo</namePart><affiliation>IPIMC, Servizio Epidemiologia e Clinica Difetti Congeniti, Rome, Italy</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Bengt</namePart><namePart type="family">Källén</namePart><affiliation>Department of Embryology, University of Lund, Sweden</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Lisbeth B.</namePart><namePart type="family">Knudsen</namePart><affiliation>National Board of Health, Copenhagen, Denmark</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Paul A. L.</namePart><namePart type="family">Lancaster</namePart><affiliation>AIH National Perinatal Statistics Unit, Sydney, Australia</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Eduardo E.</namePart><namePart type="family">Castilla</namePart><affiliation>ECLAMC/Genetica/Fiocruz, Rio de Janeiro, Brazil, IMBICE, La Plata, Argentina</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Osvaldo</namePart><namePart type="family">Mutchinick</namePart><affiliation>RYVEMCE, Instituto Nacional de Nutrición Salvador Zubiran, Mexico DF, Mexico</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Elisabeth</namePart><namePart type="family">Robert</namePart><affiliation>Institut Européen des Génomutations, Lyon, France</affiliation><role><roleTerm type="text">author</roleTerm></role></name><typeOfResource>text</typeOfResource><genre type="article" displayLabel="article" authority="ISTEX" authorityURI="https://content-type.data.istex.fr" valueURI="https://content-type.data.istex.fr/ark:/67375/XTP-6N5SZHKN-D">article</genre><originInfo><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><place><placeTerm type="text">New York</placeTerm></place><dateIssued encoding="w3cdtf">1992-11</dateIssued><dateCaptured encoding="w3cdtf">1992-02-25</dateCaptured><dateValid encoding="w3cdtf">1992-07-10</dateValid><copyrightDate encoding="w3cdtf">1992</copyrightDate></originInfo><language><languageTerm type="code" authority="rfc3066">en</languageTerm><languageTerm type="code" authority="iso639-2b">eng</languageTerm></language><physicalDescription><extent unit="figures">2</extent><extent unit="tables">4</extent><extent unit="references">32</extent></physicalDescription><abstract lang="en">The study is based on almost 10 million births and reports on 215 infants with two unusual malformations: amelia and gross body wall defect. Amelia without body wall defect was present in 116 cases, 67 had body wall defects without amelia, and 32 had both. The total rate was 2.2 per 100,000 births. The infants were divided into five mutually exclusive groups. There were 40 infants (0.4 per 100,000) with agenesis of the body stalk, 18 with amelia and other types of gross body wall defects (0.2 per 100,000), 56 with amelia and malformations other than gross body wall defects (0.6 per 100,000), 41 with amelia (with or without other limb reduction defects) but no nonlimb malformations (0.4 per 100,000), and 60 infants with gross body wall defects of a type other than agenesis of body stalk and without amelia (0.6 per 100,000). A weak trend of decreasing prevalence of these malformations was found during the observation period. Infants with agenesis of the body stalk and infants with amelia combined with other types of gross body wall defects occurred at an increased rate in infants of young women. This maternal age effect is also found with gastroschisis, but not with omphalocele, and may indicate etiological or pathogenetic similarities between gastroschisis and the two former groups of defect. In infants with amelia, additional limb reduction defects could be of any type: transverse, longitudinal, or intercalary. Therefore, amelia may be the end result of different types of disturbances of limb morphogenesis. There was an increased rate of twinning. 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