AustralieFrV1, Istex, Curation, bibRecord, 001A68

Absence of limbs and gross body wall defects: An epidemiological study of related rare malformation conditions

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Absence of limbs and gross body wall defects: An epidemiological study of related rare malformation conditions

Auteurs : Pierpaolo Mastroiacovo [Italie] ; Bengt K Llén [Suède] ; Lisbeth B. Knudsen [Danemark] ; Paul A. L. Lancaster [Australie] ; Eduardo E. Castilla [Argentine] ; Osvaldo Mutchinick [Mexique] ; Elisabeth Robert [France]

Source :

Teratology [ 0040-3709 ] ; 1992-11.

RBID : ISTEX:8D4FC85450A8D1FAC4E21173D677FB7163D67F30

Descripteurs français

Wicri :
- topic : Jumelage.

English descriptors

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.

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https://api.istex.fr/document/8D4FC85450A8D1FAC4E21173D677FB7163D67F30/fulltext/pdf

DOI: 10.1002/tera.1420460510

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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="1"><mods:affiliation>IPIMC, Servizio Epidemiologia e Clinica Difetti Congeniti, Rome, Italy</mods:affiliation>
<country xml:lang="fr">Italie</country>
<wicri:regionArea>IPIMC, Servizio Epidemiologia e Clinica Difetti Congeniti, Rome</wicri:regionArea>
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<author><name sortKey="K Llen, Bengt" sort="K Llen, Bengt" uniqKey="K Llen B" first="Bengt" last="K Llén">Bengt K Llén</name>
<affiliation wicri:level="1"><mods:affiliation>Department of Embryology, University of Lund, Sweden</mods:affiliation>
<country xml:lang="fr">Suède</country>
<wicri:regionArea>Department of Embryology, University of Lund</wicri:regionArea>
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<author><name sortKey="Knudsen, Lisbeth B" sort="Knudsen, Lisbeth B" uniqKey="Knudsen L" first="Lisbeth B." last="Knudsen">Lisbeth B. Knudsen</name>
<affiliation wicri:level="1"><mods:affiliation>National Board of Health, Copenhagen, Denmark</mods:affiliation>
<country xml:lang="fr">Danemark</country>
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<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 wicri:level="1"><mods:affiliation>AIH National Perinatal Statistics Unit, Sydney, Australia</mods:affiliation>
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<author><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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<author><name sortKey="Mutchinick, Osvaldo" sort="Mutchinick, Osvaldo" uniqKey="Mutchinick O" first="Osvaldo" last="Mutchinick">Osvaldo Mutchinick</name>
<affiliation wicri:level="1"><mods:affiliation>RYVEMCE, Instituto Nacional de Nutrición Salvador Zubiran, Mexico DF, Mexico</mods:affiliation>
<country xml:lang="fr">Mexique</country>
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<author><name sortKey="Robert, Elisabeth" sort="Robert, Elisabeth" uniqKey="Robert E" first="Elisabeth" last="Robert">Elisabeth Robert</name>
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<sourceDesc><biblStruct><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>
<author><name sortKey="Mastroiacovo, Pierpaolo" sort="Mastroiacovo, Pierpaolo" uniqKey="Mastroiacovo P" first="Pierpaolo" last="Mastroiacovo">Pierpaolo Mastroiacovo</name>
<affiliation wicri:level="1"><mods:affiliation>IPIMC, Servizio Epidemiologia e Clinica Difetti Congeniti, Rome, Italy</mods:affiliation>
<country xml:lang="fr">Italie</country>
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<author><name sortKey="K Llen, Bengt" sort="K Llen, Bengt" uniqKey="K Llen B" first="Bengt" last="K Llén">Bengt K Llén</name>
<affiliation wicri:level="1"><mods:affiliation>Department of Embryology, University of Lund, Sweden</mods:affiliation>
<country xml:lang="fr">Suède</country>
<wicri:regionArea>Department of Embryology, University of Lund</wicri:regionArea>
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<author><name sortKey="Knudsen, Lisbeth B" sort="Knudsen, Lisbeth B" uniqKey="Knudsen L" first="Lisbeth B." last="Knudsen">Lisbeth B. Knudsen</name>
<affiliation wicri:level="1"><mods:affiliation>National Board of Health, Copenhagen, Denmark</mods:affiliation>
<country xml:lang="fr">Danemark</country>
<wicri:regionArea>National Board of Health, Copenhagen</wicri:regionArea>
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<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 wicri:level="1"><mods:affiliation>AIH National Perinatal Statistics Unit, Sydney, Australia</mods:affiliation>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>AIH National Perinatal Statistics Unit, Sydney</wicri:regionArea>
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<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"><mods:affiliation>ECLAMC/Genetica/Fiocruz, Rio de Janeiro, Brazil, IMBICE, La Plata, Argentina</mods:affiliation>
<country xml:lang="fr">Argentine</country>
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<author><name sortKey="Mutchinick, Osvaldo" sort="Mutchinick, Osvaldo" uniqKey="Mutchinick O" first="Osvaldo" last="Mutchinick">Osvaldo Mutchinick</name>
<affiliation wicri:level="1"><mods:affiliation>RYVEMCE, Instituto Nacional de Nutrición Salvador Zubiran, Mexico DF, Mexico</mods:affiliation>
<country xml:lang="fr">Mexique</country>
<wicri:regionArea>RYVEMCE, Instituto Nacional de Nutrición Salvador Zubiran, Mexico DF</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Robert, Elisabeth" sort="Robert, Elisabeth" uniqKey="Robert E" first="Elisabeth" last="Robert">Elisabeth Robert</name>
<affiliation wicri:level="1"><mods:affiliation>Institut Européen des Génomutations, Lyon, France</mods:affiliation>
<country xml:lang="fr">France</country>
<wicri:regionArea>Institut Européen des Génomutations, Lyon</wicri:regionArea>
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<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>
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<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>
<keywords scheme="Wicri" type="topic" xml:lang="fr"><term>Jumelage</term>
</keywords>
</textClass>
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</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>
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Absence of limbs and gross body wall defects: An epidemiological study of related rare malformation conditions

Absence of limbs and gross body wall defects: An epidemiological study of related rare malformation conditions

Source :

Descripteurs français

English descriptors

Abstract

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Links to Exploration step

Le document en format XML

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