Phocomelia: A worldwide descriptive epidemiologic study in a large series of cases from the International Clearinghouse for Birth Defects Surveillance and Research, and overview of...

Autores: Bermejo Sánchez, Eva; Cuevas, Lourdes; Amar, Emmanuelle; Bianca, Sebastiano; Bianchi, Fabrizio; Botto, Lorenzo; Canfield, Mark A.; Castilla, Eduardo Enrique; Clementi, Maurizio; Cocchi, Guido; 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: Epidemiologic data on phocomelia are scarce. This study presents an epidemiologic analysis of the largest series of phocomelia cases known to date. Data were provided by 19 birth defect surveillance programs, all members of the International Clearinghouse for Birth Defects Surveillance and Research. Depending on the program, data corresponded to a period from 1968 through 2006. A total of 22,740,933 live births, stillbirths and, for some programs, elective terminations of pregnancy for fetal anomaly (ETOPFA) were monitored. After a detailed review of clinical data, only true phocomelia cases were included. Descriptive data are presented and additional analyses compared isolated cases with those with multiple congenital anomalies (MCA), excluding syndromes. We also briefly compared congenital anomalies associated with nonsyndromic phocomelia with those presented with amelia, another rare severe congenital limb defect. A total of 141 phocomelia cases registered gave an overall total prevalence of 0.62 per 100,000 births (95% confidence interval: 0.52-0.73). Three programs (Australia Victoria, South America ECLAMC, Italy North East) had significantly different prevalence estimates. Most cases (53.2%) had isolated phocomelia, while 9.9% had syndromes. Most nonsyndromic cases were monomelic (55.9%), with an excess of left (64.9%) and upper limb (64.9%) involvement. Most nonsyndromic cases (66.9%) were live births; most isolated cases (57.9%) weighed more than 2,499g; most MCA (60.7%) weighed less than 2,500g, and were more likely stillbirths (30.8%) or ETOPFA (15.4%) than isolated cases. The most common associated defects were musculoskeletal, cardiac, and intestinal. Epidemiological differences between phocomelia and amelia highlighted possible differences in their causes.
Fil: Bermejo Sánchez, Eva. Centro de Investigación Biomédica en Red de Enfermedades Raras; España. Instituto de Salud Carlos III; España
Fil: Cuevas, Lourdes. Centro de Investigación Biomédica en Red de Enfermedades Raras; España. Instituto de Salud Carlos III; España
Fil: Amar, Emmanuelle. Rhone-alps Registry Of Birth Defects Remera; Francia
Fil: Bianca, Sebastiano. Centro Di Consulenza Genetica E Di Teratologia Della Riproduzione; Italia
Fil: Bianchi, Fabrizio. Centro di Consulenza Genetica e di Teratologia della Riproduzione; Italia
Fil: Botto, Lorenzo. University of Utah Health Sciences; Estados Unidos
Fil: Canfield, Mark A.. Texas Department Of State Health Services; Estados Unidos
Fil: Castilla, Eduardo Enrique. Fundación Oswaldo Cruz; Brasil. Centro de Educación Medica E Invest.clinicas; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina
Fil: Clementi, Maurizio. Università di Padova; Italia
Fil: Cocchi, Guido. Universidad de Bologna; Italia
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. Instituto de Salud Carlos III; España. Centro de Investigación Biomédica en Red de Enfermedades Raras; España. Universidad Complutense de Madrid; España
Materia: EPIDEMIOLOGY
FREQUENCY
ICBDSR
PHOCOMELIA
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:11336/195593

Acceder

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oai_identifier_str	oai:ri.conicet.gov.ar:11336/195593
network_acronym_str	CONICETDig
repository_id_str	3498
network_name_str	CONICET Digital (CONICET)
spelling	Phocomelia: A worldwide descriptive epidemiologic study in a large series of cases from the International Clearinghouse for Birth Defects Surveillance and Research, and overview of the literatureBermejo Sánchez, EvaCuevas, LourdesAmar, EmmanuelleBianca, SebastianoBianchi, FabrizioBotto, LorenzoCanfield, Mark A.Castilla, Eduardo EnriqueClementi, MaurizioCocchi, GuidoLandau, DanielleLeoncini, EmanueleLi, ZhuLowry, R. BrianMastroiacovo, PierpaoloMutchinick, Osvaldo M.Rissmann, AnkeRitvanen, AnnukkaScarano, GioacchinoSiffel, CsabaSzabova, ElenaMartínez Frías, María LuisaEPIDEMIOLOGYFREQUENCYICBDSRPHOCOMELIAPREVALENCEhttps://purl.org/becyt/ford/3.3https://purl.org/becyt/ford/3Epidemiologic data on phocomelia are scarce. This study presents an epidemiologic analysis of the largest series of phocomelia cases known to date. Data were provided by 19 birth defect surveillance programs, all members of the International Clearinghouse for Birth Defects Surveillance and Research. Depending on the program, data corresponded to a period from 1968 through 2006. A total of 22,740,933 live births, stillbirths and, for some programs, elective terminations of pregnancy for fetal anomaly (ETOPFA) were monitored. After a detailed review of clinical data, only true phocomelia cases were included. Descriptive data are presented and additional analyses compared isolated cases with those with multiple congenital anomalies (MCA), excluding syndromes. We also briefly compared congenital anomalies associated with nonsyndromic phocomelia with those presented with amelia, another rare severe congenital limb defect. A total of 141 phocomelia cases registered gave an overall total prevalence of 0.62 per 100,000 births (95% confidence interval: 0.52-0.73). Three programs (Australia Victoria, South America ECLAMC, Italy North East) had significantly different prevalence estimates. Most cases (53.2%) had isolated phocomelia, while 9.9% had syndromes. Most nonsyndromic cases were monomelic (55.9%), with an excess of left (64.9%) and upper limb (64.9%) involvement. Most nonsyndromic cases (66.9%) were live births; most isolated cases (57.9%) weighed more than 2,499g; most MCA (60.7%) weighed less than 2,500g, and were more likely stillbirths (30.8%) or ETOPFA (15.4%) than isolated cases. The most common associated defects were musculoskeletal, cardiac, and intestinal. Epidemiological differences between phocomelia and amelia highlighted possible differences in their causes.Fil: Bermejo Sánchez, Eva. Centro de Investigación Biomédica en Red de Enfermedades Raras; España. Instituto de Salud Carlos III; EspañaFil: Cuevas, Lourdes. Centro de Investigación Biomédica en Red de Enfermedades Raras; España. Instituto de Salud Carlos III; EspañaFil: Amar, Emmanuelle. Rhone-alps Registry Of Birth Defects Remera; FranciaFil: Bianca, Sebastiano. Centro Di Consulenza Genetica E Di Teratologia Della Riproduzione; ItaliaFil: Bianchi, Fabrizio. Centro di Consulenza Genetica e di Teratologia della Riproduzione; ItaliaFil: Botto, Lorenzo. University of Utah Health Sciences; Estados UnidosFil: Canfield, Mark A.. Texas Department Of State Health Services; Estados UnidosFil: Castilla, Eduardo Enrique. Fundación Oswaldo Cruz; Brasil. Centro de Educación Medica E Invest.clinicas; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas; ArgentinaFil: Clementi, Maurizio. Università di Padova; ItaliaFil: Cocchi, Guido. Universidad de Bologna; ItaliaFil: 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. Instituto de Salud Carlos III; España. Centro de Investigación Biomédica en Red de Enfermedades Raras; España. Universidad Complutense de Madrid; 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/11336/195593Bermejo Sánchez, Eva; Cuevas, Lourdes; Amar, Emmanuelle; Bianca, Sebastiano; Bianchi, Fabrizio; et al.; Phocomelia: A worldwide descriptive epidemiologic study in a large series of cases 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; 305-3201552-4868CONICET DigitalCONICETenginfo:eu-repo/semantics/altIdentifier/url/https://onlinelibrary.wiley.com/doi/abs/10.1002/ajmg.c.30320info:eu-repo/semantics/altIdentifier/doi/10.1002/ajmg.c.30320info:eu-repo/semantics/openAccesshttps://creativecommons.org/licenses/by-nc-sa/2.5/ar/reponame:CONICET Digital (CONICET)instname:Consejo Nacional de Investigaciones Científicas y Técnicas2025-10-15T15:45:29Zoai:ri.conicet.gov.ar:11336/195593instacron: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 15:45:30.237CONICET Digital (CONICET) - Consejo Nacional de Investigaciones Científicas y Técnicasfalse
dc.title.none.fl_str_mv	Phocomelia: A worldwide descriptive epidemiologic study in a large series of cases from the International Clearinghouse for Birth Defects Surveillance and Research, and overview of the literature
title	Phocomelia: A worldwide descriptive epidemiologic study in a large series of cases from the International Clearinghouse for Birth Defects Surveillance and Research, and overview of the literature
spellingShingle	Phocomelia: A worldwide descriptive epidemiologic study in a large series of cases from the International Clearinghouse for Birth Defects Surveillance and Research, and overview of the literature Bermejo Sánchez, Eva EPIDEMIOLOGY FREQUENCY ICBDSR PHOCOMELIA PREVALENCE
title_short	Phocomelia: A worldwide descriptive epidemiologic study in a large series of cases from the International Clearinghouse for Birth Defects Surveillance and Research, and overview of the literature
title_full	Phocomelia: A worldwide descriptive epidemiologic study in a large series of cases from the International Clearinghouse for Birth Defects Surveillance and Research, and overview of the literature
title_fullStr	Phocomelia: A worldwide descriptive epidemiologic study in a large series of cases from the International Clearinghouse for Birth Defects Surveillance and Research, and overview of the literature
title_full_unstemmed	Phocomelia: A worldwide descriptive epidemiologic study in a large series of cases from the International Clearinghouse for Birth Defects Surveillance and Research, and overview of the literature
title_sort	Phocomelia: A worldwide descriptive epidemiologic study in a large series of cases 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 Bianca, Sebastiano Bianchi, Fabrizio Botto, Lorenzo Canfield, Mark A. Castilla, Eduardo Enrique Clementi, Maurizio Cocchi, Guido 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 Bianca, Sebastiano Bianchi, Fabrizio Botto, Lorenzo Canfield, Mark A. Castilla, Eduardo Enrique Clementi, Maurizio Cocchi, Guido 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 Bianca, Sebastiano Bianchi, Fabrizio Botto, Lorenzo Canfield, Mark A. Castilla, Eduardo Enrique Clementi, Maurizio Cocchi, Guido 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
dc.subject.none.fl_str_mv	EPIDEMIOLOGY FREQUENCY ICBDSR PHOCOMELIA PREVALENCE
topic	EPIDEMIOLOGY FREQUENCY ICBDSR PHOCOMELIA 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	Epidemiologic data on phocomelia are scarce. This study presents an epidemiologic analysis of the largest series of phocomelia cases known to date. Data were provided by 19 birth defect surveillance programs, all members of the International Clearinghouse for Birth Defects Surveillance and Research. Depending on the program, data corresponded to a period from 1968 through 2006. A total of 22,740,933 live births, stillbirths and, for some programs, elective terminations of pregnancy for fetal anomaly (ETOPFA) were monitored. After a detailed review of clinical data, only true phocomelia cases were included. Descriptive data are presented and additional analyses compared isolated cases with those with multiple congenital anomalies (MCA), excluding syndromes. We also briefly compared congenital anomalies associated with nonsyndromic phocomelia with those presented with amelia, another rare severe congenital limb defect. A total of 141 phocomelia cases registered gave an overall total prevalence of 0.62 per 100,000 births (95% confidence interval: 0.52-0.73). Three programs (Australia Victoria, South America ECLAMC, Italy North East) had significantly different prevalence estimates. Most cases (53.2%) had isolated phocomelia, while 9.9% had syndromes. Most nonsyndromic cases were monomelic (55.9%), with an excess of left (64.9%) and upper limb (64.9%) involvement. Most nonsyndromic cases (66.9%) were live births; most isolated cases (57.9%) weighed more than 2,499g; most MCA (60.7%) weighed less than 2,500g, and were more likely stillbirths (30.8%) or ETOPFA (15.4%) than isolated cases. The most common associated defects were musculoskeletal, cardiac, and intestinal. Epidemiological differences between phocomelia and amelia highlighted possible differences in their causes. Fil: Bermejo Sánchez, Eva. Centro de Investigación Biomédica en Red de Enfermedades Raras; España. Instituto de Salud Carlos III; España Fil: Cuevas, Lourdes. Centro de Investigación Biomédica en Red de Enfermedades Raras; España. Instituto de Salud Carlos III; España Fil: Amar, Emmanuelle. Rhone-alps Registry Of Birth Defects Remera; Francia Fil: Bianca, Sebastiano. Centro Di Consulenza Genetica E Di Teratologia Della Riproduzione; Italia Fil: Bianchi, Fabrizio. Centro di Consulenza Genetica e di Teratologia della Riproduzione; Italia Fil: Botto, Lorenzo. University of Utah Health Sciences; Estados Unidos Fil: Canfield, Mark A.. Texas Department Of State Health Services; Estados Unidos Fil: Castilla, Eduardo Enrique. Fundación Oswaldo Cruz; Brasil. Centro de Educación Medica E Invest.clinicas; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina Fil: Clementi, Maurizio. Università di Padova; Italia Fil: Cocchi, Guido. Universidad de Bologna; Italia 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. Instituto de Salud Carlos III; España. Centro de Investigación Biomédica en Red de Enfermedades Raras; España. Universidad Complutense de Madrid; España
description	Epidemiologic data on phocomelia are scarce. This study presents an epidemiologic analysis of the largest series of phocomelia cases known to date. Data were provided by 19 birth defect surveillance programs, all members of the International Clearinghouse for Birth Defects Surveillance and Research. Depending on the program, data corresponded to a period from 1968 through 2006. A total of 22,740,933 live births, stillbirths and, for some programs, elective terminations of pregnancy for fetal anomaly (ETOPFA) were monitored. After a detailed review of clinical data, only true phocomelia cases were included. Descriptive data are presented and additional analyses compared isolated cases with those with multiple congenital anomalies (MCA), excluding syndromes. We also briefly compared congenital anomalies associated with nonsyndromic phocomelia with those presented with amelia, another rare severe congenital limb defect. A total of 141 phocomelia cases registered gave an overall total prevalence of 0.62 per 100,000 births (95% confidence interval: 0.52-0.73). Three programs (Australia Victoria, South America ECLAMC, Italy North East) had significantly different prevalence estimates. Most cases (53.2%) had isolated phocomelia, while 9.9% had syndromes. Most nonsyndromic cases were monomelic (55.9%), with an excess of left (64.9%) and upper limb (64.9%) involvement. Most nonsyndromic cases (66.9%) were live births; most isolated cases (57.9%) weighed more than 2,499g; most MCA (60.7%) weighed less than 2,500g, and were more likely stillbirths (30.8%) or ETOPFA (15.4%) than isolated cases. The most common associated defects were musculoskeletal, cardiac, and intestinal. Epidemiological differences between phocomelia and amelia highlighted possible differences in their causes.
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/11336/195593 Bermejo Sánchez, Eva; Cuevas, Lourdes; Amar, Emmanuelle; Bianca, Sebastiano; Bianchi, Fabrizio; et al.; Phocomelia: A worldwide descriptive epidemiologic study in a large series of cases 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; 305-320 1552-4868 CONICET Digital CONICET
url	http://hdl.handle.net/11336/195593
identifier_str_mv	Bermejo Sánchez, Eva; Cuevas, Lourdes; Amar, Emmanuelle; Bianca, Sebastiano; Bianchi, Fabrizio; et al.; Phocomelia: A worldwide descriptive epidemiologic study in a large series of cases 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; 305-320 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.30320 info:eu-repo/semantics/altIdentifier/doi/10.1002/ajmg.c.30320
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
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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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Phocomelia: A worldwide descriptive epidemiologic study in a large series of cases from the International Clearinghouse for Birth Defects Surveillance and Research, and overview of...

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