Preferential Associated Anomalies in 818 Cases of Microtia in South America

Autores
Luquetti, Daniela V.; Cox, Timothy C.; López Camelo, Jorge Santiago; Dutra, Maria da Graça; Cunningham, Michael L.; Castilla, Eduardo Enrique
Año de publicación
2013
Idioma
inglés
Tipo de recurso
artículo
Estado
versión publicada
Descripción
The etiology of microtia remains unknown in most cases. The identification of patterns of associated anomalies (i.e., other anomalies that occur with a given congenital anomaly in a higher than expected frequency), is a methodology that has been used for research into the etiology of birth defects. We conducted a study based on cases of microtia that were diagnosed from more than 5 million live (LB)- and stillbirths (SB) examined in hospitals participating in ECLAMC (Latin American Collaborative Study of Congenital Malformations) between 1967 and 2009. We identified 818 LB and SB with microtia and at least one additional non-related major congenital anomaly (cases) and 15,969 LB and SB with two or more unrelated major congenital anomalies except microtia (controls). A logistic regression analysis was performed to identify the congenital anomalies preferentially associated with microtia. Preferential associations were observed for 10 congenital anomalies, most of them in the craniofacial region, including facial asymmetry, choanal atresia, and eyelid colobomata. The analysis by type of microtia showed that for anomalies such as cleft lip and palate, macrostomia, and limb reduction defects, the frequency increased with the severity of the microtia. In contrast, for other anomalies the frequency tended to be the same across all types of microtia. Based on these results we will integrate data on the developmental pathways related to preferentially associated congenital anomalies for future studies investigating the etiology of microtia.
Fil: Luquetti, Daniela V.. University of Washington. School of Medicine; Estados Unidos
Fil: Cox, Timothy C.. University of Washington. School of Medicine; Estados Unidos. Monash University; Australia
Fil: López Camelo, Jorge Santiago. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - La Plata. Instituto Multidisciplinario de Biología Celular. Provincia de Buenos Aires. Gobernación. Comisión de Investigaciones Científicas. Instituto Multidisciplinario de Biología Celular. Universidad Nacional de La Plata. Instituto Multidisciplinario de Biología Celular; Argentina. Centro de Educación Médica e Investigaciones Clínicas “Norberto Quirno”; Argentina
Fil: Dutra, Maria da Graça. Fundación Oswaldo Cruz; Brasil
Fil: Cunningham, Michael L.. University of Washington. School of Medicine; Estados Unidos
Fil: Castilla, Eduardo Enrique. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Parque Centenario. CEMIC-CONICET. Centro de Educaciones Médicas e Investigaciones Clínicas "Norberto Quirno". CEMIC-CONICET.; Argentina. Fundación Oswaldo Cruz; Brasil. Instituto Nacional de Ciência e Tecnologia de Genética Médica Populacional; Brasil
Materia
BIRTH DEFECTS
EPIDEMIOLOGY
MICROTIA
MULTIPLE CONGENITAL ANOMALIES
Nivel de accesibilidad
acceso abierto
Condiciones de uso
https://creativecommons.org/licenses/by-nc-nd/2.5/ar/
Repositorio
CONICET Digital (CONICET)
Institución
Consejo Nacional de Investigaciones Científicas y Técnicas
OAI Identificador
oai:ri.conicet.gov.ar:11336/85796
Acceder
id CONICETDig_a5d6e3139a0470a1fcaab8d0a54416d7
oai_identifier_str oai:ri.conicet.gov.ar:11336/85796
network_acronym_str CONICETDig
repository_id_str 3498
network_name_str CONICET Digital (CONICET)
spelling Preferential Associated Anomalies in 818 Cases of Microtia in South AmericaLuquetti, Daniela V.Cox, Timothy C.López Camelo, Jorge SantiagoDutra, Maria da GraçaCunningham, Michael L.Castilla, Eduardo EnriqueBIRTH DEFECTSEPIDEMIOLOGYMICROTIAMULTIPLE CONGENITAL ANOMALIEShttps://purl.org/becyt/ford/3.3https://purl.org/becyt/ford/3The etiology of microtia remains unknown in most cases. The identification of patterns of associated anomalies (i.e., other anomalies that occur with a given congenital anomaly in a higher than expected frequency), is a methodology that has been used for research into the etiology of birth defects. We conducted a study based on cases of microtia that were diagnosed from more than 5 million live (LB)- and stillbirths (SB) examined in hospitals participating in ECLAMC (Latin American Collaborative Study of Congenital Malformations) between 1967 and 2009. We identified 818 LB and SB with microtia and at least one additional non-related major congenital anomaly (cases) and 15,969 LB and SB with two or more unrelated major congenital anomalies except microtia (controls). A logistic regression analysis was performed to identify the congenital anomalies preferentially associated with microtia. Preferential associations were observed for 10 congenital anomalies, most of them in the craniofacial region, including facial asymmetry, choanal atresia, and eyelid colobomata. The analysis by type of microtia showed that for anomalies such as cleft lip and palate, macrostomia, and limb reduction defects, the frequency increased with the severity of the microtia. In contrast, for other anomalies the frequency tended to be the same across all types of microtia. Based on these results we will integrate data on the developmental pathways related to preferentially associated congenital anomalies for future studies investigating the etiology of microtia.Fil: Luquetti, Daniela V.. University of Washington. School of Medicine; Estados UnidosFil: Cox, Timothy C.. University of Washington. School of Medicine; Estados Unidos. Monash University; AustraliaFil: López Camelo, Jorge Santiago. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - La Plata. Instituto Multidisciplinario de Biología Celular. Provincia de Buenos Aires. Gobernación. Comisión de Investigaciones Científicas. Instituto Multidisciplinario de Biología Celular. Universidad Nacional de La Plata. Instituto Multidisciplinario de Biología Celular; Argentina. Centro de Educación Médica e Investigaciones Clínicas “Norberto Quirno”; ArgentinaFil: Dutra, Maria da Graça. Fundación Oswaldo Cruz; BrasilFil: Cunningham, Michael L.. University of Washington. School of Medicine; Estados UnidosFil: Castilla, Eduardo Enrique. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Parque Centenario. CEMIC-CONICET. Centro de Educaciones Médicas e Investigaciones Clínicas "Norberto Quirno". CEMIC-CONICET.; Argentina. Fundación Oswaldo Cruz; Brasil. Instituto Nacional de Ciência e Tecnologia de Genética Médica Populacional; BrasilWiley-liss, Div John Wiley & Sons Inc2013-05info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionhttp://purl.org/coar/resource_type/c_6501info:ar-repo/semantics/articuloapplication/pdfapplication/vnd.openxmlformats-officedocument.wordprocessingml.documentapplication/pdfhttp://hdl.handle.net/11336/85796Luquetti, Daniela V.; Cox, Timothy C.; López Camelo, Jorge Santiago; Dutra, Maria da Graça; Cunningham, Michael L.; et al.; Preferential Associated Anomalies in 818 Cases of Microtia in South America; Wiley-liss, Div John Wiley & Sons Inc; American Journal of Medical Genetics Part A; 161; 5; 5-2013; 1051-10571552-4825CONICET DigitalCONICETenginfo:eu-repo/semantics/altIdentifier/url/https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3634880/info:eu-repo/semantics/altIdentifier/doi/10.1002/ajmg.a.35888info:eu-repo/semantics/altIdentifier/url/https://onlinelibrary.wiley.com/doi/abs/10.1002/ajmg.a.35888info:eu-repo/semantics/openAccesshttps://creativecommons.org/licenses/by-nc-nd/2.5/ar/reponame:CONICET Digital (CONICET)instname:Consejo Nacional de Investigaciones Científicas y Técnicas2025-09-10T13:11:02Zoai:ri.conicet.gov.ar:11336/85796instacron: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:34982025-09-10 13:11:02.608CONICET Digital (CONICET) - Consejo Nacional de Investigaciones Científicas y Técnicasfalse
dc.title.none.fl_str_mv Preferential Associated Anomalies in 818 Cases of Microtia in South America
title Preferential Associated Anomalies in 818 Cases of Microtia in South America
spellingShingle Preferential Associated Anomalies in 818 Cases of Microtia in South America
Luquetti, Daniela V.
BIRTH DEFECTS
EPIDEMIOLOGY
MICROTIA
MULTIPLE CONGENITAL ANOMALIES
title_short Preferential Associated Anomalies in 818 Cases of Microtia in South America
title_full Preferential Associated Anomalies in 818 Cases of Microtia in South America
title_fullStr Preferential Associated Anomalies in 818 Cases of Microtia in South America
title_full_unstemmed Preferential Associated Anomalies in 818 Cases of Microtia in South America
title_sort Preferential Associated Anomalies in 818 Cases of Microtia in South America
dc.creator.none.fl_str_mv Luquetti, Daniela V.
Cox, Timothy C.
López Camelo, Jorge Santiago
Dutra, Maria da Graça
Cunningham, Michael L.
Castilla, Eduardo Enrique
author Luquetti, Daniela V.
author_facet Luquetti, Daniela V.
Cox, Timothy C.
López Camelo, Jorge Santiago
Dutra, Maria da Graça
Cunningham, Michael L.
Castilla, Eduardo Enrique
author_role author
author2 Cox, Timothy C.
López Camelo, Jorge Santiago
Dutra, Maria da Graça
Cunningham, Michael L.
Castilla, Eduardo Enrique
author2_role author
author
author
author
author
dc.subject.none.fl_str_mv BIRTH DEFECTS
EPIDEMIOLOGY
MICROTIA
MULTIPLE CONGENITAL ANOMALIES
topic BIRTH DEFECTS
EPIDEMIOLOGY
MICROTIA
MULTIPLE CONGENITAL ANOMALIES
purl_subject.fl_str_mv https://purl.org/becyt/ford/3.3
https://purl.org/becyt/ford/3
dc.description.none.fl_txt_mv The etiology of microtia remains unknown in most cases. The identification of patterns of associated anomalies (i.e., other anomalies that occur with a given congenital anomaly in a higher than expected frequency), is a methodology that has been used for research into the etiology of birth defects. We conducted a study based on cases of microtia that were diagnosed from more than 5 million live (LB)- and stillbirths (SB) examined in hospitals participating in ECLAMC (Latin American Collaborative Study of Congenital Malformations) between 1967 and 2009. We identified 818 LB and SB with microtia and at least one additional non-related major congenital anomaly (cases) and 15,969 LB and SB with two or more unrelated major congenital anomalies except microtia (controls). A logistic regression analysis was performed to identify the congenital anomalies preferentially associated with microtia. Preferential associations were observed for 10 congenital anomalies, most of them in the craniofacial region, including facial asymmetry, choanal atresia, and eyelid colobomata. The analysis by type of microtia showed that for anomalies such as cleft lip and palate, macrostomia, and limb reduction defects, the frequency increased with the severity of the microtia. In contrast, for other anomalies the frequency tended to be the same across all types of microtia. Based on these results we will integrate data on the developmental pathways related to preferentially associated congenital anomalies for future studies investigating the etiology of microtia.
Fil: Luquetti, Daniela V.. University of Washington. School of Medicine; Estados Unidos
Fil: Cox, Timothy C.. University of Washington. School of Medicine; Estados Unidos. Monash University; Australia
Fil: López Camelo, Jorge Santiago. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - La Plata. Instituto Multidisciplinario de Biología Celular. Provincia de Buenos Aires. Gobernación. Comisión de Investigaciones Científicas. Instituto Multidisciplinario de Biología Celular. Universidad Nacional de La Plata. Instituto Multidisciplinario de Biología Celular; Argentina. Centro de Educación Médica e Investigaciones Clínicas “Norberto Quirno”; Argentina
Fil: Dutra, Maria da Graça. Fundación Oswaldo Cruz; Brasil
Fil: Cunningham, Michael L.. University of Washington. School of Medicine; Estados Unidos
Fil: Castilla, Eduardo Enrique. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Parque Centenario. CEMIC-CONICET. Centro de Educaciones Médicas e Investigaciones Clínicas "Norberto Quirno". CEMIC-CONICET.; Argentina. Fundación Oswaldo Cruz; Brasil. Instituto Nacional de Ciência e Tecnologia de Genética Médica Populacional; Brasil
description The etiology of microtia remains unknown in most cases. The identification of patterns of associated anomalies (i.e., other anomalies that occur with a given congenital anomaly in a higher than expected frequency), is a methodology that has been used for research into the etiology of birth defects. We conducted a study based on cases of microtia that were diagnosed from more than 5 million live (LB)- and stillbirths (SB) examined in hospitals participating in ECLAMC (Latin American Collaborative Study of Congenital Malformations) between 1967 and 2009. We identified 818 LB and SB with microtia and at least one additional non-related major congenital anomaly (cases) and 15,969 LB and SB with two or more unrelated major congenital anomalies except microtia (controls). A logistic regression analysis was performed to identify the congenital anomalies preferentially associated with microtia. Preferential associations were observed for 10 congenital anomalies, most of them in the craniofacial region, including facial asymmetry, choanal atresia, and eyelid colobomata. The analysis by type of microtia showed that for anomalies such as cleft lip and palate, macrostomia, and limb reduction defects, the frequency increased with the severity of the microtia. In contrast, for other anomalies the frequency tended to be the same across all types of microtia. Based on these results we will integrate data on the developmental pathways related to preferentially associated congenital anomalies for future studies investigating the etiology of microtia.
publishDate 2013
dc.date.none.fl_str_mv 2013-05
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/11336/85796
Luquetti, Daniela V.; Cox, Timothy C.; López Camelo, Jorge Santiago; Dutra, Maria da Graça; Cunningham, Michael L.; et al.; Preferential Associated Anomalies in 818 Cases of Microtia in South America; Wiley-liss, Div John Wiley & Sons Inc; American Journal of Medical Genetics Part A; 161; 5; 5-2013; 1051-1057
1552-4825
CONICET Digital
CONICET
url http://hdl.handle.net/11336/85796
identifier_str_mv Luquetti, Daniela V.; Cox, Timothy C.; López Camelo, Jorge Santiago; Dutra, Maria da Graça; Cunningham, Michael L.; et al.; Preferential Associated Anomalies in 818 Cases of Microtia in South America; Wiley-liss, Div John Wiley & Sons Inc; American Journal of Medical Genetics Part A; 161; 5; 5-2013; 1051-1057
1552-4825
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://www.ncbi.nlm.nih.gov/pmc/articles/PMC3634880/
info:eu-repo/semantics/altIdentifier/doi/10.1002/ajmg.a.35888
info:eu-repo/semantics/altIdentifier/url/https://onlinelibrary.wiley.com/doi/abs/10.1002/ajmg.a.35888
dc.rights.none.fl_str_mv info:eu-repo/semantics/openAccess
https://creativecommons.org/licenses/by-nc-nd/2.5/ar/
eu_rights_str_mv openAccess
rights_invalid_str_mv https://creativecommons.org/licenses/by-nc-nd/2.5/ar/
dc.format.none.fl_str_mv application/pdf
application/vnd.openxmlformats-officedocument.wordprocessingml.document
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
_version_ 1842980561543495680
score 12.993085

Publicaciones similares