Amelia: A multi-center descriptive epidemiologic study in a large dataset from the International Clearinghouse for Birth Defects Surveillance and Research, and overview of the lite...

Autores
Bermejo Sánchez, Eva; Cuevas, Lourdes; Amar, Emmanuelle; Bakker, Marian K.; Bianca, Sebastiano; Bianchi, Fabrizio; Canfield, Mark A.; Castilla, Eduardo Enrique; Clementi, Maurizio; Cocchi, Guido; Feldkamp, Marcia L.; Landau, Danielle; Leoncini, Emanuele; Li, Zhu; Lowry, R. Brian; Mastroiacovo, Pierpaolo; Mutchinick, Osvaldo M.; Rissmann, Anke; Ritvanen, Annukka; Scarano, Gioacchino; Siffel, Csaba; Szabova, Elena; Martínez Frías, María Luisa
Año de publicación
2011
Idioma
inglés
Tipo de recurso
artículo
Estado
versión publicada
Descripción
This study describes the epidemiology of congenital amelia (absence of limb/s), using the largest series of cases known to date. Data were gathered by 20 surveillance programs on congenital anomalies, all International Clearinghouse for Birth Defects Surveillance and Research members, from all continents but Africa, from 1968 to 2006, depending on the program. Reported clinical information on cases was thoroughly reviewed to identify those strictly meeting the definition of amelia. Those with amniotic bands or limb-body wall complex were excluded. The primary epidemiological analyses focused on isolated cases and those with multiple congenital anomalies (MCA). A total of 326 amelia cases were ascertained among 23,110,591 live births, stillbirths and (for some programs) elective terminations of pregnancy for fetal anomalies. The overall total prevalence was 1.41 per 100,000 (95% confidence interval: 1.26-1.57). Only China Beijing and Mexico RYVEMCE had total prevalences, which were significantly higher than this overall total prevalence. Some under-registration could influence the total prevalence in some programs. Liveborn cases represented 54.6% of total. Among monomelic cases (representing 65.2% of nonsyndromic amelia cases), both sides were equally involved, and the upper limbs (53.9%) were slightly more frequently affected. One of the most interesting findings was a higher prevalence of amelia among offspring of mothers younger than 20 years. Sixty-nine percent of the cases had MCA or syndromes. The most frequent defects associated with amelia were other types of musculoskeletal defects, intestinal, some renal and genital defects, oral clefts, defects of cardiac septa, and anencephaly.
Fil: Bermejo Sánchez, Eva. Centro de Investigación Biomédica En Red de Enfermedades Raras; España. Instituto de Salud Carlos III; España
Fil: Cuevas, Lourdes. Instituto de Salud Carlos III; España. Centro de Investigación Biomédica En Red de Enfermedades Raras; España
Fil: Amar, Emmanuelle. Rhone-alps Registry Of Birth Defects Remera; Francia
Fil: Bakker, Marian K.. University of Groningen; Países Bajos
Fil: Bianca, Sebastiano. Centro di Consulenza Genetica e di Teratologia della Riproduzione; Italia
Fil: Bianchi, Fabrizio. CNR Institute of Clinical Physiology and CNR-Tuscany Region “Gabriele Monasterio” Foundation; Francia
Fil: Canfield, Mark A.. Texas Department of State Health Services; Estados Unidos
Fil: Castilla, Eduardo Enrique. Fundación Oswaldo Cruz; Brasil. Instituto Nacional de Genética Médica Populacional; Brasil. Centro de Educación Medica E Invest.clinicas; Argentina
Fil: Clementi, Maurizio. Università di Padova; Italia
Fil: Cocchi, Guido. Universidad de Bologna; Italia
Fil: Feldkamp, Marcia L.. University of Utah Health School of Medicine; Estados Unidos. Utah Birth Defect Network; Estados Unidos
Fil: Landau, Danielle. Soroka University Medical Center; Israel
Fil: Leoncini, Emanuele. Centre Of The International Clearinghouse For Birth Defects Surveillance And Research; Italia
Fil: Li, Zhu. Peking University Health Science Center; China
Fil: Lowry, R. Brian. Alberta Congenital Anomalies Surveillance System; Canadá
Fil: Mastroiacovo, Pierpaolo. Centre of the International Clearinghouse for Birth Defects Surveillance and Research; Italia
Fil: Mutchinick, Osvaldo M.. Instituto Nacional de la Nutrición Salvador Zubiran; México
Fil: Rissmann, Anke. Otto-von-Guericke-Universität Magdeburg; Alemania
Fil: Ritvanen, Annukka. National Institute for Health and Welfare; Finlandia
Fil: Scarano, Gioacchino. General Hospital “G. Rummo” Benevento; Italia
Fil: Siffel, Csaba. Centers for Disease Control and Prevention; Estados Unidos
Fil: Szabova, Elena. Slovak Medical University; Eslovaquia
Fil: Martínez Frías, María Luisa. Centro de Investigación Biomédica En Red de Enfermedades Raras; España. Universidad Complutense de Madrid; España. Instituto de Salud Carlos III; España
Materia
AMELIA
EPIDEMIOLOGY
FREQUENCY
ICBDSR
PREVALENCE
Nivel de accesibilidad
acceso abierto
Condiciones de uso
https://creativecommons.org/licenses/by-nc-sa/2.5/ar/
Repositorio
CONICET Digital (CONICET)
Institución
Consejo Nacional de Investigaciones Científicas y Técnicas
OAI Identificador
oai:ri.conicet.gov.ar:11336/193651

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network_name_str CONICET Digital (CONICET)
spelling Amelia: A multi-center descriptive epidemiologic study in a large dataset from the International Clearinghouse for Birth Defects Surveillance and Research, and overview of the literatureBermejo Sánchez, EvaCuevas, LourdesAmar, EmmanuelleBakker, Marian K.Bianca, SebastianoBianchi, FabrizioCanfield, Mark A.Castilla, Eduardo EnriqueClementi, MaurizioCocchi, GuidoFeldkamp, Marcia L.Landau, DanielleLeoncini, EmanueleLi, ZhuLowry, R. BrianMastroiacovo, PierpaoloMutchinick, Osvaldo M.Rissmann, AnkeRitvanen, AnnukkaScarano, GioacchinoSiffel, CsabaSzabova, ElenaMartínez Frías, María LuisaAMELIAEPIDEMIOLOGYFREQUENCYICBDSRPREVALENCEhttps://purl.org/becyt/ford/3.3https://purl.org/becyt/ford/3This study describes the epidemiology of congenital amelia (absence of limb/s), using the largest series of cases known to date. Data were gathered by 20 surveillance programs on congenital anomalies, all International Clearinghouse for Birth Defects Surveillance and Research members, from all continents but Africa, from 1968 to 2006, depending on the program. Reported clinical information on cases was thoroughly reviewed to identify those strictly meeting the definition of amelia. Those with amniotic bands or limb-body wall complex were excluded. The primary epidemiological analyses focused on isolated cases and those with multiple congenital anomalies (MCA). A total of 326 amelia cases were ascertained among 23,110,591 live births, stillbirths and (for some programs) elective terminations of pregnancy for fetal anomalies. The overall total prevalence was 1.41 per 100,000 (95% confidence interval: 1.26-1.57). Only China Beijing and Mexico RYVEMCE had total prevalences, which were significantly higher than this overall total prevalence. Some under-registration could influence the total prevalence in some programs. Liveborn cases represented 54.6% of total. Among monomelic cases (representing 65.2% of nonsyndromic amelia cases), both sides were equally involved, and the upper limbs (53.9%) were slightly more frequently affected. One of the most interesting findings was a higher prevalence of amelia among offspring of mothers younger than 20 years. Sixty-nine percent of the cases had MCA or syndromes. The most frequent defects associated with amelia were other types of musculoskeletal defects, intestinal, some renal and genital defects, oral clefts, defects of cardiac septa, and anencephaly.Fil: Bermejo Sánchez, Eva. Centro de Investigación Biomédica En Red de Enfermedades Raras; España. Instituto de Salud Carlos III; EspañaFil: Cuevas, Lourdes. Instituto de Salud Carlos III; España. Centro de Investigación Biomédica En Red de Enfermedades Raras; EspañaFil: Amar, Emmanuelle. Rhone-alps Registry Of Birth Defects Remera; FranciaFil: Bakker, Marian K.. University of Groningen; Países BajosFil: Bianca, Sebastiano. Centro di Consulenza Genetica e di Teratologia della Riproduzione; ItaliaFil: Bianchi, Fabrizio. CNR Institute of Clinical Physiology and CNR-Tuscany Region “Gabriele Monasterio” Foundation; FranciaFil: Canfield, Mark A.. Texas Department of State Health Services; Estados UnidosFil: Castilla, Eduardo Enrique. Fundación Oswaldo Cruz; Brasil. Instituto Nacional de Genética Médica Populacional; Brasil. Centro de Educación Medica E Invest.clinicas; ArgentinaFil: Clementi, Maurizio. Università di Padova; ItaliaFil: Cocchi, Guido. Universidad de Bologna; ItaliaFil: Feldkamp, Marcia L.. University of Utah Health School of Medicine; Estados Unidos. Utah Birth Defect Network; Estados UnidosFil: Landau, Danielle. Soroka University Medical Center; IsraelFil: Leoncini, Emanuele. Centre Of The International Clearinghouse For Birth Defects Surveillance And Research; ItaliaFil: Li, Zhu. Peking University Health Science Center; ChinaFil: Lowry, R. Brian. Alberta Congenital Anomalies Surveillance System; CanadáFil: Mastroiacovo, Pierpaolo. Centre of the International Clearinghouse for Birth Defects Surveillance and Research; ItaliaFil: Mutchinick, Osvaldo M.. Instituto Nacional de la Nutrición Salvador Zubiran; MéxicoFil: Rissmann, Anke. Otto-von-Guericke-Universität Magdeburg; AlemaniaFil: Ritvanen, Annukka. National Institute for Health and Welfare; FinlandiaFil: Scarano, Gioacchino. General Hospital “G. Rummo” Benevento; ItaliaFil: Siffel, Csaba. Centers for Disease Control and Prevention; Estados UnidosFil: Szabova, Elena. Slovak Medical University; EslovaquiaFil: Martínez Frías, María Luisa. Centro de Investigación Biomédica En Red de Enfermedades Raras; España. Universidad Complutense de Madrid; España. Instituto de Salud Carlos III; EspañaWiley-liss, div John Wiley & Sons Inc.2011-08info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionhttp://purl.org/coar/resource_type/c_6501info:ar-repo/semantics/articuloapplication/pdfapplication/pdfhttp://hdl.handle.net/11336/193651Bermejo Sánchez, Eva; Cuevas, Lourdes; Amar, Emmanuelle; Bakker, Marian K.; Bianca, Sebastiano; et al.; Amelia: A multi-center descriptive epidemiologic study in a large dataset from the International Clearinghouse for Birth Defects Surveillance and Research, and overview of the literature; Wiley-liss, div John Wiley & Sons Inc.; American Journal Of Medical Genetics Part C-seminars In Medical Genetics; 157; 4; 8-2011; 288-3041552-4868CONICET DigitalCONICETenginfo:eu-repo/semantics/altIdentifier/url/https://onlinelibrary.wiley.com/doi/abs/10.1002/ajmg.c.30319info:eu-repo/semantics/altIdentifier/doi/10.1002/ajmg.c.30319info:eu-repo/semantics/openAccesshttps://creativecommons.org/licenses/by-nc-sa/2.5/ar/reponame:CONICET Digital (CONICET)instname:Consejo Nacional de Investigaciones Científicas y Técnicas2025-10-15T15:29:15Zoai:ri.conicet.gov.ar:11336/193651instacron:CONICETInstitucionalhttp://ri.conicet.gov.ar/Organismo científico-tecnológicoNo correspondehttp://ri.conicet.gov.ar/oai/requestdasensio@conicet.gov.ar; lcarlino@conicet.gov.arArgentinaNo correspondeNo correspondeNo correspondeopendoar:34982025-10-15 15:29:16.203CONICET Digital (CONICET) - Consejo Nacional de Investigaciones Científicas y Técnicasfalse
dc.title.none.fl_str_mv Amelia: A multi-center descriptive epidemiologic study in a large dataset from the International Clearinghouse for Birth Defects Surveillance and Research, and overview of the literature
title Amelia: A multi-center descriptive epidemiologic study in a large dataset from the International Clearinghouse for Birth Defects Surveillance and Research, and overview of the literature
spellingShingle Amelia: A multi-center descriptive epidemiologic study in a large dataset from the International Clearinghouse for Birth Defects Surveillance and Research, and overview of the literature
Bermejo Sánchez, Eva
AMELIA
EPIDEMIOLOGY
FREQUENCY
ICBDSR
PREVALENCE
title_short Amelia: A multi-center descriptive epidemiologic study in a large dataset from the International Clearinghouse for Birth Defects Surveillance and Research, and overview of the literature
title_full Amelia: A multi-center descriptive epidemiologic study in a large dataset from the International Clearinghouse for Birth Defects Surveillance and Research, and overview of the literature
title_fullStr Amelia: A multi-center descriptive epidemiologic study in a large dataset from the International Clearinghouse for Birth Defects Surveillance and Research, and overview of the literature
title_full_unstemmed Amelia: A multi-center descriptive epidemiologic study in a large dataset from the International Clearinghouse for Birth Defects Surveillance and Research, and overview of the literature
title_sort Amelia: A multi-center descriptive epidemiologic study in a large dataset from the International Clearinghouse for Birth Defects Surveillance and Research, and overview of the literature
dc.creator.none.fl_str_mv Bermejo Sánchez, Eva
Cuevas, Lourdes
Amar, Emmanuelle
Bakker, Marian K.
Bianca, Sebastiano
Bianchi, Fabrizio
Canfield, Mark A.
Castilla, Eduardo Enrique
Clementi, Maurizio
Cocchi, Guido
Feldkamp, Marcia L.
Landau, Danielle
Leoncini, Emanuele
Li, Zhu
Lowry, R. Brian
Mastroiacovo, Pierpaolo
Mutchinick, Osvaldo M.
Rissmann, Anke
Ritvanen, Annukka
Scarano, Gioacchino
Siffel, Csaba
Szabova, Elena
Martínez Frías, María Luisa
author Bermejo Sánchez, Eva
author_facet Bermejo Sánchez, Eva
Cuevas, Lourdes
Amar, Emmanuelle
Bakker, Marian K.
Bianca, Sebastiano
Bianchi, Fabrizio
Canfield, Mark A.
Castilla, Eduardo Enrique
Clementi, Maurizio
Cocchi, Guido
Feldkamp, Marcia L.
Landau, Danielle
Leoncini, Emanuele
Li, Zhu
Lowry, R. Brian
Mastroiacovo, Pierpaolo
Mutchinick, Osvaldo M.
Rissmann, Anke
Ritvanen, Annukka
Scarano, Gioacchino
Siffel, Csaba
Szabova, Elena
Martínez Frías, María Luisa
author_role author
author2 Cuevas, Lourdes
Amar, Emmanuelle
Bakker, Marian K.
Bianca, Sebastiano
Bianchi, Fabrizio
Canfield, Mark A.
Castilla, Eduardo Enrique
Clementi, Maurizio
Cocchi, Guido
Feldkamp, Marcia L.
Landau, Danielle
Leoncini, Emanuele
Li, Zhu
Lowry, R. Brian
Mastroiacovo, Pierpaolo
Mutchinick, Osvaldo M.
Rissmann, Anke
Ritvanen, Annukka
Scarano, Gioacchino
Siffel, Csaba
Szabova, Elena
Martínez Frías, María Luisa
author2_role author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
dc.subject.none.fl_str_mv AMELIA
EPIDEMIOLOGY
FREQUENCY
ICBDSR
PREVALENCE
topic AMELIA
EPIDEMIOLOGY
FREQUENCY
ICBDSR
PREVALENCE
purl_subject.fl_str_mv https://purl.org/becyt/ford/3.3
https://purl.org/becyt/ford/3
dc.description.none.fl_txt_mv This study describes the epidemiology of congenital amelia (absence of limb/s), using the largest series of cases known to date. Data were gathered by 20 surveillance programs on congenital anomalies, all International Clearinghouse for Birth Defects Surveillance and Research members, from all continents but Africa, from 1968 to 2006, depending on the program. Reported clinical information on cases was thoroughly reviewed to identify those strictly meeting the definition of amelia. Those with amniotic bands or limb-body wall complex were excluded. The primary epidemiological analyses focused on isolated cases and those with multiple congenital anomalies (MCA). A total of 326 amelia cases were ascertained among 23,110,591 live births, stillbirths and (for some programs) elective terminations of pregnancy for fetal anomalies. The overall total prevalence was 1.41 per 100,000 (95% confidence interval: 1.26-1.57). Only China Beijing and Mexico RYVEMCE had total prevalences, which were significantly higher than this overall total prevalence. Some under-registration could influence the total prevalence in some programs. Liveborn cases represented 54.6% of total. Among monomelic cases (representing 65.2% of nonsyndromic amelia cases), both sides were equally involved, and the upper limbs (53.9%) were slightly more frequently affected. One of the most interesting findings was a higher prevalence of amelia among offspring of mothers younger than 20 years. Sixty-nine percent of the cases had MCA or syndromes. The most frequent defects associated with amelia were other types of musculoskeletal defects, intestinal, some renal and genital defects, oral clefts, defects of cardiac septa, and anencephaly.
Fil: Bermejo Sánchez, Eva. Centro de Investigación Biomédica En Red de Enfermedades Raras; España. Instituto de Salud Carlos III; España
Fil: Cuevas, Lourdes. Instituto de Salud Carlos III; España. Centro de Investigación Biomédica En Red de Enfermedades Raras; España
Fil: Amar, Emmanuelle. Rhone-alps Registry Of Birth Defects Remera; Francia
Fil: Bakker, Marian K.. University of Groningen; Países Bajos
Fil: Bianca, Sebastiano. Centro di Consulenza Genetica e di Teratologia della Riproduzione; Italia
Fil: Bianchi, Fabrizio. CNR Institute of Clinical Physiology and CNR-Tuscany Region “Gabriele Monasterio” Foundation; Francia
Fil: Canfield, Mark A.. Texas Department of State Health Services; Estados Unidos
Fil: Castilla, Eduardo Enrique. Fundación Oswaldo Cruz; Brasil. Instituto Nacional de Genética Médica Populacional; Brasil. Centro de Educación Medica E Invest.clinicas; Argentina
Fil: Clementi, Maurizio. Università di Padova; Italia
Fil: Cocchi, Guido. Universidad de Bologna; Italia
Fil: Feldkamp, Marcia L.. University of Utah Health School of Medicine; Estados Unidos. Utah Birth Defect Network; Estados Unidos
Fil: Landau, Danielle. Soroka University Medical Center; Israel
Fil: Leoncini, Emanuele. Centre Of The International Clearinghouse For Birth Defects Surveillance And Research; Italia
Fil: Li, Zhu. Peking University Health Science Center; China
Fil: Lowry, R. Brian. Alberta Congenital Anomalies Surveillance System; Canadá
Fil: Mastroiacovo, Pierpaolo. Centre of the International Clearinghouse for Birth Defects Surveillance and Research; Italia
Fil: Mutchinick, Osvaldo M.. Instituto Nacional de la Nutrición Salvador Zubiran; México
Fil: Rissmann, Anke. Otto-von-Guericke-Universität Magdeburg; Alemania
Fil: Ritvanen, Annukka. National Institute for Health and Welfare; Finlandia
Fil: Scarano, Gioacchino. General Hospital “G. Rummo” Benevento; Italia
Fil: Siffel, Csaba. Centers for Disease Control and Prevention; Estados Unidos
Fil: Szabova, Elena. Slovak Medical University; Eslovaquia
Fil: Martínez Frías, María Luisa. Centro de Investigación Biomédica En Red de Enfermedades Raras; España. Universidad Complutense de Madrid; España. Instituto de Salud Carlos III; España
description This study describes the epidemiology of congenital amelia (absence of limb/s), using the largest series of cases known to date. Data were gathered by 20 surveillance programs on congenital anomalies, all International Clearinghouse for Birth Defects Surveillance and Research members, from all continents but Africa, from 1968 to 2006, depending on the program. Reported clinical information on cases was thoroughly reviewed to identify those strictly meeting the definition of amelia. Those with amniotic bands or limb-body wall complex were excluded. The primary epidemiological analyses focused on isolated cases and those with multiple congenital anomalies (MCA). A total of 326 amelia cases were ascertained among 23,110,591 live births, stillbirths and (for some programs) elective terminations of pregnancy for fetal anomalies. The overall total prevalence was 1.41 per 100,000 (95% confidence interval: 1.26-1.57). Only China Beijing and Mexico RYVEMCE had total prevalences, which were significantly higher than this overall total prevalence. Some under-registration could influence the total prevalence in some programs. Liveborn cases represented 54.6% of total. Among monomelic cases (representing 65.2% of nonsyndromic amelia cases), both sides were equally involved, and the upper limbs (53.9%) were slightly more frequently affected. One of the most interesting findings was a higher prevalence of amelia among offspring of mothers younger than 20 years. Sixty-nine percent of the cases had MCA or syndromes. The most frequent defects associated with amelia were other types of musculoskeletal defects, intestinal, some renal and genital defects, oral clefts, defects of cardiac septa, and anencephaly.
publishDate 2011
dc.date.none.fl_str_mv 2011-08
dc.type.none.fl_str_mv info:eu-repo/semantics/article
info:eu-repo/semantics/publishedVersion
http://purl.org/coar/resource_type/c_6501
info:ar-repo/semantics/articulo
format article
status_str publishedVersion
dc.identifier.none.fl_str_mv http://hdl.handle.net/11336/193651
Bermejo Sánchez, Eva; Cuevas, Lourdes; Amar, Emmanuelle; Bakker, Marian K.; Bianca, Sebastiano; et al.; Amelia: A multi-center descriptive epidemiologic study in a large dataset from the International Clearinghouse for Birth Defects Surveillance and Research, and overview of the literature; Wiley-liss, div John Wiley & Sons Inc.; American Journal Of Medical Genetics Part C-seminars In Medical Genetics; 157; 4; 8-2011; 288-304
1552-4868
CONICET Digital
CONICET
url http://hdl.handle.net/11336/193651
identifier_str_mv Bermejo Sánchez, Eva; Cuevas, Lourdes; Amar, Emmanuelle; Bakker, Marian K.; Bianca, Sebastiano; et al.; Amelia: A multi-center descriptive epidemiologic study in a large dataset from the International Clearinghouse for Birth Defects Surveillance and Research, and overview of the literature; Wiley-liss, div John Wiley & Sons Inc.; American Journal Of Medical Genetics Part C-seminars In Medical Genetics; 157; 4; 8-2011; 288-304
1552-4868
CONICET Digital
CONICET
dc.language.none.fl_str_mv eng
language eng
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info:eu-repo/semantics/altIdentifier/doi/10.1002/ajmg.c.30319
dc.rights.none.fl_str_mv info:eu-repo/semantics/openAccess
https://creativecommons.org/licenses/by-nc-sa/2.5/ar/
eu_rights_str_mv openAccess
rights_invalid_str_mv https://creativecommons.org/licenses/by-nc-sa/2.5/ar/
dc.format.none.fl_str_mv application/pdf
application/pdf
dc.publisher.none.fl_str_mv Wiley-liss, div John Wiley & Sons Inc.
publisher.none.fl_str_mv Wiley-liss, div John Wiley & Sons Inc.
dc.source.none.fl_str_mv reponame:CONICET Digital (CONICET)
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repository.mail.fl_str_mv dasensio@conicet.gov.ar; lcarlino@conicet.gov.ar
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