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dc.contributor.author
Bermejo Sánchez, Eva
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Cuevas, Lourdes
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Amar, Emmanuelle
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Bakker, Marian K.
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Bianca, Sebastiano
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Bianchi, Fabrizio
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Canfield, Mark A.
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Castilla, Eduardo Enrique
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Clementi, Maurizio
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Cocchi, Guido
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Feldkamp, Marcia L.
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Landau, Danielle
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Leoncini, Emanuele
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Li, Zhu
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Lowry, R. Brian
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Mastroiacovo, Pierpaolo
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Mutchinick, Osvaldo M.
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Rissmann, Anke
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Ritvanen, Annukka
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Scarano, Gioacchino
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Siffel, Csaba
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Szabova, Elena
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Martínez Frías, María Luisa
dc.date.available
2023-04-13T12:42:09Z
dc.date.issued
2011-08
dc.identifier.citation
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
dc.identifier.issn
1552-4868
dc.identifier.uri
http://hdl.handle.net/11336/193651
dc.description.abstract
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.
dc.format
application/pdf
dc.language.iso
eng
dc.publisher
Wiley-liss, div John Wiley & Sons Inc.
dc.rights
info:eu-repo/semantics/openAccess
dc.rights.uri
https://creativecommons.org/licenses/by-nc-sa/2.5/ar/
dc.subject
AMELIA
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EPIDEMIOLOGY
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FREQUENCY
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ICBDSR
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PREVALENCE
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Epidemiología
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Ciencias de la Salud
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CIENCIAS MÉDICAS Y DE LA SALUD
dc.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
dc.type
info:eu-repo/semantics/article
dc.type
info:ar-repo/semantics/artículo
dc.type
info:eu-repo/semantics/publishedVersion
dc.date.updated
2023-04-05T15:31:53Z
dc.journal.volume
157
dc.journal.number
4
dc.journal.pagination
288-304
dc.journal.pais
Estados Unidos
dc.journal.ciudad
New York
dc.description.fil
Fil: Bermejo Sánchez, Eva. Centro de Investigación Biomédica En Red de Enfermedades Raras; España. Instituto de Salud Carlos III; España
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Fil: Cuevas, Lourdes. Instituto de Salud Carlos III; España. Centro de Investigación Biomédica En Red de Enfermedades Raras; España
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Fil: Amar, Emmanuelle. Rhone-alps Registry Of Birth Defects Remera; Francia
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Fil: Bakker, Marian K.. University of Groningen; Países Bajos
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Fil: Bianca, Sebastiano. Centro di Consulenza Genetica e di Teratologia della Riproduzione; Italia
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Fil: Bianchi, Fabrizio. CNR Institute of Clinical Physiology and CNR-Tuscany Region “Gabriele Monasterio” Foundation; Francia
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Fil: Canfield, Mark A.. Texas Department of State Health Services; Estados Unidos
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Fil: Castilla, Eduardo Enrique. Fundación Oswaldo Cruz; Brasil. Instituto Nacional de Genética Médica Populacional; Brasil. Centro de Educación Medica E Invest.clinicas; Argentina
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Fil: Clementi, Maurizio. Università di Padova; Italia
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Fil: Cocchi, Guido. Universidad de Bologna; Italia
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Fil: Feldkamp, Marcia L.. University of Utah Health School of Medicine; Estados Unidos. Utah Birth Defect Network; Estados Unidos
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Fil: Landau, Danielle. Soroka University Medical Center; Israel
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Fil: Leoncini, Emanuele. Centre Of The International Clearinghouse For Birth Defects Surveillance And Research; Italia
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Fil: Li, Zhu. Peking University Health Science Center; China
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Fil: Lowry, R. Brian. Alberta Congenital Anomalies Surveillance System; Canadá
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Fil: Mastroiacovo, Pierpaolo. Centre of the International Clearinghouse for Birth Defects Surveillance and Research; Italia
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Fil: Mutchinick, Osvaldo M.. Instituto Nacional de la Nutrición Salvador Zubiran; México
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Fil: Rissmann, Anke. Otto-von-Guericke-Universität Magdeburg; Alemania
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Fil: Ritvanen, Annukka. National Institute for Health and Welfare; Finlandia
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Fil: Scarano, Gioacchino. General Hospital “G. Rummo” Benevento; Italia
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Fil: Siffel, Csaba. Centers for Disease Control and Prevention; Estados Unidos
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Fil: Szabova, Elena. Slovak Medical University; Eslovaquia
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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
dc.journal.title
American Journal Of Medical Genetics Part C-seminars In Medical Genetics
dc.relation.alternativeid
info:eu-repo/semantics/altIdentifier/url/https://onlinelibrary.wiley.com/doi/abs/10.1002/ajmg.c.30319
dc.relation.alternativeid
info:eu-repo/semantics/altIdentifier/doi/https://doi.org/10.1002/ajmg.c.30319
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