Mostrar el registro sencillo del ítem
dc.contributor.author
Orioli, Ieda Maria
![Se ha confirmado la validez de este valor de autoridad por un usuario](/themes/CONICETDigital/images/authority_control/invisible.gif)
dc.contributor.author
Amar, Emmanuelle
dc.contributor.author
Arteaga Vazquez, Jazmin
dc.contributor.author
Bakker, Marian K.
dc.contributor.author
Bianca, Sebastiano
dc.contributor.author
Botto, Lorenzo
![Se ha confirmado la validez de este valor de autoridad por un usuario](/themes/CONICETDigital/images/authority_control/invisible.gif)
dc.contributor.author
Clementi, Maurizio
dc.contributor.author
Correa, Adolfo
dc.contributor.author
Csaky Szunyogh, Melinda
dc.contributor.author
Leoncini, Emanuele
dc.contributor.author
Li, Zhu
dc.contributor.author
López Camelo, Jorge S.
dc.contributor.author
Lowry, R. Brian
dc.contributor.author
Marengo, Lisa
dc.contributor.author
Martínez Frías, María Luisa
dc.contributor.author
Mastroiacovo, Pierpaolo
![Se ha confirmado la validez de este valor de autoridad por un usuario](/themes/CONICETDigital/images/authority_control/invisible.gif)
dc.contributor.author
Morgan, Margery
dc.contributor.author
Pierini, Anna
dc.contributor.author
Ritvanen, Annukka
dc.contributor.author
Scarano, Gioacchino
dc.contributor.author
Szabova, Elena
dc.contributor.author
Castilla, Eduardo Enrique
![Se ha confirmado la validez de este valor de autoridad por un usuario](/themes/CONICETDigital/images/authority_control/invisible.gif)
dc.date.available
2024-07-17T11:48:25Z
dc.date.issued
2011-08
dc.identifier.citation
Orioli, Ieda Maria; Amar, Emmanuelle; Arteaga Vazquez, Jazmin; Bakker, Marian K.; Bianca, Sebastiano; et al.; Sirenomelia: An epidemiologic study in a large dataset from the International Clearinghouse of Birth Defects Surveillance and Research, and literature review; Wiley-liss, div John Wiley & Sons Inc.; American Journal Of Medical Genetics Part C-seminars In Medical Genetics; 157; 4; 8-2011; 358-373
dc.identifier.issn
1552-4868
dc.identifier.uri
http://hdl.handle.net/11336/240147
dc.description.abstract
Sirenomelia is a very rare limb anomaly in which the normally paired lower limbs are replaced by a single midline limb. This study describes the prevalence, associated malformations, and maternal characteristics among cases with sirenomelia. Data originated from 19 birth defect surveillance system members of the International Clearinghouse for Birth Defects Surveillance and Research, and were reported according to a single pre-established protocol. Cases were clinically evaluated locally and reviewed centrally. A total of 249 cases with sirenomelia were identified among 25,290,172 births, for a prevalence of 0.98 per 100,000, with higher prevalence in the Mexican registry. An increase of sirenomelia prevalence with maternal age less than 20 years was statistically significant. The proportion of twinning was 9%, higher than the 1% expected. Sex was ambiguous in 47% of cases, and no different from expectation in the rest. The proportion of cases born alive, premature, and weighting less than 2,500 g were 47%, 71.2%, and 88.2%, respectively. Half of the cases with sirenomelia also presented with genital, large bowel, and urinary defects. About 10–15% of the cases had lower spinal column defects, single or anomalous umbilical artery, upper limb, cardiac, and central nervous system defects. There was a greater than expected association of sirenomelia with other very rare defects such as bladder exstrophy, cyclopia/holoprosencephaly, and acardia-acephalus. The application of the new biological network analysis approach, including molecular results, to these associated very rare diseases is suggested for future studies. © 2011 Wiley Periodicals, Inc.
dc.format
application/pdf
dc.language.iso
eng
dc.publisher
Wiley-liss, div John Wiley & Sons Inc.
![Se ha confirmado la validez de este valor de autoridad por un usuario](/themes/CONICETDigital/images/authority_control/invisible.gif)
dc.rights
info:eu-repo/semantics/restrictedAccess
dc.rights.uri
https://creativecommons.org/licenses/by-nc-sa/2.5/ar/
dc.subject
Sirenomelia
dc.subject
Epidemiologic
dc.subject
Clearinghouse
dc.subject
Research
dc.subject.classification
Epidemiología
![Se ha confirmado la validez de este valor de autoridad por un usuario](/themes/CONICETDigital/images/authority_control/invisible.gif)
dc.subject.classification
Ciencias de la Salud
![Se ha confirmado la validez de este valor de autoridad por un usuario](/themes/CONICETDigital/images/authority_control/invisible.gif)
dc.subject.classification
CIENCIAS MÉDICAS Y DE LA SALUD
![Se ha confirmado la validez de este valor de autoridad por un usuario](/themes/CONICETDigital/images/authority_control/invisible.gif)
dc.title
Sirenomelia: An epidemiologic study in a large dataset from the International Clearinghouse of Birth Defects Surveillance and Research, and literature review
dc.type
info:eu-repo/semantics/article
dc.type
info:ar-repo/semantics/artículo
dc.type
info:eu-repo/semantics/publishedVersion
dc.date.updated
2024-06-06T10:17:46Z
dc.journal.volume
157
dc.journal.number
4
dc.journal.pagination
358-373
dc.journal.pais
Estados Unidos
![Se ha confirmado la validez de este valor de autoridad por un usuario](/themes/CONICETDigital/images/authority_control/invisible.gif)
dc.journal.ciudad
New York
dc.description.fil
Fil: Orioli, Ieda Maria. Instituto Nacional de Genética Médica Populacional; Brasil. Instituto de Biologia; Brasil
dc.description.fil
Fil: Amar, Emmanuelle. Rhone-alps Registry Of Birth Defects Remera; Francia
dc.description.fil
Fil: Arteaga Vazquez, Jazmin. Instituto Nacional de Ciencias Médicas y Nutrición “Salvador Zubirán”; México
dc.description.fil
Fil: Bakker, Marian K.. University of Groningen; Países Bajos
dc.description.fil
Fil: Bianca, Sebastiano. Centro di Consulenza Genetica e di Teratologia della Riproduzione; Italia
dc.description.fil
Fil: Botto, Lorenzo. University of Utah; Estados Unidos
dc.description.fil
Fil: Clementi, Maurizio. Università di Padova; Italia
dc.description.fil
Fil: Correa, Adolfo. Centers for Disease Control and Prevention; Estados Unidos
dc.description.fil
Fil: Csaky Szunyogh, Melinda. National Center for Healthcare Audit and Inspection; Hungría
dc.description.fil
Fil: Leoncini, Emanuele. Centre of the International Clearinghouse for Birth Defects Surveillance and Research; Italia
dc.description.fil
Fil: Li, Zhu. Peking University Health Science Center; China
dc.description.fil
Fil: López Camelo, Jorge S.. Instituto Nacional de Genética Médica Populacional; Brasil. Centro de Educación Médica e Investigación Clínica; Brasil
dc.description.fil
Fil: Lowry, R. Brian. Alberta Congenital Anomalies Surveillance System; Argentina
dc.description.fil
Fil: Marengo, Lisa. Texas Department of State Health Services; Estados Unidos
dc.description.fil
Fil: Martínez Frías, María Luisa. Instituto de Salud Carlos III; España. Centre for Biomedical Research on Rare Diseases; España. Universidad Complutense de Madrid; España
dc.description.fil
Fil: Mastroiacovo, Pierpaolo. Centre of the International Clearinghouse for Birth Defects Surveillance and Research; Italia
dc.description.fil
Fil: Morgan, Margery. the Congenital Anomaly and Register for Wales; Reino Unido
dc.description.fil
Fil: Pierini, Anna. Istituto di Fisiologia Clinica; Italia. Consiglio Nazionale delle Ricerche; Italia
dc.description.fil
Fil: Ritvanen, Annukka. National Institute for Health and Welfare; Estados Unidos
dc.description.fil
Fil: Scarano, Gioacchino. General Hospital “G. Rummo” Benevento; Italia
dc.description.fil
Fil: Szabova, Elena. Slovak Medical University; Eslovaquia
dc.description.fil
Fil: Castilla, Eduardo Enrique. Ministerio de Salud de Brasil. Fundación Oswaldo Cruz. Instituto Oswaldo Cruz; . Centro de Educación Médica e Investigación Clínica; Argentina. Instituto Nacional de Genética Médica Populacional; Brasil. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina
dc.journal.title
American Journal Of Medical Genetics Part C-seminars In Medical Genetics
![Se ha confirmado la validez de este valor de autoridad por un usuario](/themes/CONICETDigital/images/authority_control/invisible.gif)
dc.relation.alternativeid
info:eu-repo/semantics/altIdentifier/doi/http://dx.doi.org/10.1002/ajmg.c.30324
dc.relation.alternativeid
info:eu-repo/semantics/altIdentifier/url/https://onlinelibrary.wiley.com/doi/10.1002/ajmg.c.30324
Archivos asociados