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
- Institución
- Consejo Nacional de Investigaciones Científicas y Técnicas
- OAI Identificador
- oai:ri.conicet.gov.ar:11336/193651
Ver los metadatos del registro completo
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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 |
dc.relation.none.fl_str_mv |
info:eu-repo/semantics/altIdentifier/url/https://onlinelibrary.wiley.com/doi/abs/10.1002/ajmg.c.30319 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) instname:Consejo Nacional de Investigaciones Científicas y Técnicas |
reponame_str |
CONICET Digital (CONICET) |
collection |
CONICET Digital (CONICET) |
instname_str |
Consejo Nacional de Investigaciones Científicas y Técnicas |
repository.name.fl_str_mv |
CONICET Digital (CONICET) - Consejo Nacional de Investigaciones Científicas y Técnicas |
repository.mail.fl_str_mv |
dasensio@conicet.gov.ar; lcarlino@conicet.gov.ar |
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13.22299 |