Associated anomalies among infants with oral clefts at birth and during a 1-year follow-up

Autores
Rittler, Monica; Cosentino, Viviana Raquel; López Camelo, Jorge Santiago; Murray, Jeffrey C.; Wehby, George; Castilla, Eduardo Enrique
Año de publicación
2011
Idioma
inglés
Tipo de recurso
artículo
Estado
versión publicada
Descripción
Reports of birth defects rates may focus on defects observed in the newborn period or include defects diagnosed at older ages. However, little information is available on the rates of additional anomalies detected after birth or on the ages at which such anomalies are diagnosed. The aims of this work were to describe the initial diagnoses of oral clefts, isolated or associated with other defects, in newborn infants ascertained in hospitals of the ECLAMC network, and diagnostic changes that occurred due to detection of additional defects during a 1-year follow-up period. Seven hundred ten liveborn infants with cleft lip only (CLO), cleft lip with cleft palate (CLP), or cleft palate (CP) were ascertained between 2003 and 2005. Prevalence estimates of isolated and associated (ASO) clefts, diagnoses in infants with associated clefts, and the percentage of isolated clefts that were reclassified as associated were established. Birth prevalence estimates (per 1,000) were as follows: Total: 1.7; CLP: 0.94 (ASO=23.5%); CP: 0.46 (ASO=42.3%); CLO: 0.28 (ASO=7.6%). Initial diagnoses in infants with associated clefts included 38 infants with chromosomal abnormalities, 33 with non-chromosomal syndromes, 16 with malformation sequences, and 98 with multiple anomalies of unknown etiology. Seven percent of newborns initially classified as isolated were later reclassified as associated. Ten infants without associated defects or clinically suspected syndromes were diagnosed as syndromic only through laboratory findings or family history, illustrating the difference between the terms associated versus isolated, which refers to presence or absence of associated anomalies, and syndromic versus non-syndromic, which refers to etiology.
Fil: Rittler, Monica. Provincia de Buenos Aires. Hospital Materno Infantil Ramón Sardá; Argentina. Organizacion Mundial de la Salud; Argentina
Fil: Cosentino, Viviana Raquel. Centro de Educación Médica e Investigaciones Clínicas “Norberto Quirno”; Argentina
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. 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
Fil: Murray, Jeffrey C.. University of Iowa; Estados Unidos
Fil: Wehby, George. University of Iowa; 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
Materia
ASSOCIATED
FOLLOW-UP
ISOLATED
ORAL CLEFTS
SYNDROMIC
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:11336/95465
Acceder
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oai_identifier_str oai:ri.conicet.gov.ar:11336/95465
network_acronym_str CONICETDig
repository_id_str 3498
network_name_str CONICET Digital (CONICET)
spelling Associated anomalies among infants with oral clefts at birth and during a 1-year follow-upRittler, MonicaCosentino, Viviana RaquelLópez Camelo, Jorge SantiagoMurray, Jeffrey C.Wehby, GeorgeCastilla, Eduardo EnriqueASSOCIATEDFOLLOW-UPISOLATEDORAL CLEFTSSYNDROMIChttps://purl.org/becyt/ford/3.3https://purl.org/becyt/ford/3Reports of birth defects rates may focus on defects observed in the newborn period or include defects diagnosed at older ages. However, little information is available on the rates of additional anomalies detected after birth or on the ages at which such anomalies are diagnosed. The aims of this work were to describe the initial diagnoses of oral clefts, isolated or associated with other defects, in newborn infants ascertained in hospitals of the ECLAMC network, and diagnostic changes that occurred due to detection of additional defects during a 1-year follow-up period. Seven hundred ten liveborn infants with cleft lip only (CLO), cleft lip with cleft palate (CLP), or cleft palate (CP) were ascertained between 2003 and 2005. Prevalence estimates of isolated and associated (ASO) clefts, diagnoses in infants with associated clefts, and the percentage of isolated clefts that were reclassified as associated were established. Birth prevalence estimates (per 1,000) were as follows: Total: 1.7; CLP: 0.94 (ASO=23.5%); CP: 0.46 (ASO=42.3%); CLO: 0.28 (ASO=7.6%). Initial diagnoses in infants with associated clefts included 38 infants with chromosomal abnormalities, 33 with non-chromosomal syndromes, 16 with malformation sequences, and 98 with multiple anomalies of unknown etiology. Seven percent of newborns initially classified as isolated were later reclassified as associated. Ten infants without associated defects or clinically suspected syndromes were diagnosed as syndromic only through laboratory findings or family history, illustrating the difference between the terms associated versus isolated, which refers to presence or absence of associated anomalies, and syndromic versus non-syndromic, which refers to etiology.Fil: Rittler, Monica. Provincia de Buenos Aires. Hospital Materno Infantil Ramón Sardá; Argentina. Organizacion Mundial de la Salud; ArgentinaFil: Cosentino, Viviana Raquel. Centro de Educación Médica e Investigaciones Clínicas “Norberto Quirno”; ArgentinaFil: 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. 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; ArgentinaFil: Murray, Jeffrey C.. University of Iowa; Estados UnidosFil: Wehby, George. University of Iowa; 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; BrasilWiley-liss, Div John Wiley & Sons Inc2011-07info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionhttp://purl.org/coar/resource_type/c_6501info:ar-repo/semantics/articuloapplication/pdfapplication/pdfapplication/pdfapplication/pdfhttp://hdl.handle.net/11336/95465Rittler, Monica; Cosentino, Viviana Raquel; López Camelo, Jorge Santiago; Murray, Jeffrey C.; Wehby, George; et al.; Associated anomalies among infants with oral clefts at birth and during a 1-year follow-up; Wiley-liss, Div John Wiley & Sons Inc; American Journal of Medical Genetics Part A; 155; 7; 7-2011; 1588-15961552-4825CONICET DigitalCONICETenginfo:eu-repo/semantics/altIdentifier/url/https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3650830/info:eu-repo/semantics/altIdentifier/url/https://onlinelibrary.wiley.com/doi/abs/10.1002/ajmg.a.34046info:eu-repo/semantics/altIdentifier/doi/10.1002/ajmg.a.34046info:eu-repo/semantics/openAccesshttps://creativecommons.org/licenses/by-nc-nd/2.5/ar/reponame:CONICET Digital (CONICET)instname:Consejo Nacional de Investigaciones Científicas y Técnicas2025-10-15T14:28:42Zoai:ri.conicet.gov.ar:11336/95465instacron: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 14:28:42.724CONICET Digital (CONICET) - Consejo Nacional de Investigaciones Científicas y Técnicasfalse
dc.title.none.fl_str_mv Associated anomalies among infants with oral clefts at birth and during a 1-year follow-up
title Associated anomalies among infants with oral clefts at birth and during a 1-year follow-up
spellingShingle Associated anomalies among infants with oral clefts at birth and during a 1-year follow-up
Rittler, Monica
ASSOCIATED
FOLLOW-UP
ISOLATED
ORAL CLEFTS
SYNDROMIC
title_short Associated anomalies among infants with oral clefts at birth and during a 1-year follow-up
title_full Associated anomalies among infants with oral clefts at birth and during a 1-year follow-up
title_fullStr Associated anomalies among infants with oral clefts at birth and during a 1-year follow-up
title_full_unstemmed Associated anomalies among infants with oral clefts at birth and during a 1-year follow-up
title_sort Associated anomalies among infants with oral clefts at birth and during a 1-year follow-up
dc.creator.none.fl_str_mv Rittler, Monica
Cosentino, Viviana Raquel
López Camelo, Jorge Santiago
Murray, Jeffrey C.
Wehby, George
Castilla, Eduardo Enrique
author Rittler, Monica
author_facet Rittler, Monica
Cosentino, Viviana Raquel
López Camelo, Jorge Santiago
Murray, Jeffrey C.
Wehby, George
Castilla, Eduardo Enrique
author_role author
author2 Cosentino, Viviana Raquel
López Camelo, Jorge Santiago
Murray, Jeffrey C.
Wehby, George
Castilla, Eduardo Enrique
author2_role author
author
author
author
author
dc.subject.none.fl_str_mv ASSOCIATED
FOLLOW-UP
ISOLATED
ORAL CLEFTS
SYNDROMIC
topic ASSOCIATED
FOLLOW-UP
ISOLATED
ORAL CLEFTS
SYNDROMIC
purl_subject.fl_str_mv https://purl.org/becyt/ford/3.3
https://purl.org/becyt/ford/3
dc.description.none.fl_txt_mv Reports of birth defects rates may focus on defects observed in the newborn period or include defects diagnosed at older ages. However, little information is available on the rates of additional anomalies detected after birth or on the ages at which such anomalies are diagnosed. The aims of this work were to describe the initial diagnoses of oral clefts, isolated or associated with other defects, in newborn infants ascertained in hospitals of the ECLAMC network, and diagnostic changes that occurred due to detection of additional defects during a 1-year follow-up period. Seven hundred ten liveborn infants with cleft lip only (CLO), cleft lip with cleft palate (CLP), or cleft palate (CP) were ascertained between 2003 and 2005. Prevalence estimates of isolated and associated (ASO) clefts, diagnoses in infants with associated clefts, and the percentage of isolated clefts that were reclassified as associated were established. Birth prevalence estimates (per 1,000) were as follows: Total: 1.7; CLP: 0.94 (ASO=23.5%); CP: 0.46 (ASO=42.3%); CLO: 0.28 (ASO=7.6%). Initial diagnoses in infants with associated clefts included 38 infants with chromosomal abnormalities, 33 with non-chromosomal syndromes, 16 with malformation sequences, and 98 with multiple anomalies of unknown etiology. Seven percent of newborns initially classified as isolated were later reclassified as associated. Ten infants without associated defects or clinically suspected syndromes were diagnosed as syndromic only through laboratory findings or family history, illustrating the difference between the terms associated versus isolated, which refers to presence or absence of associated anomalies, and syndromic versus non-syndromic, which refers to etiology.
Fil: Rittler, Monica. Provincia de Buenos Aires. Hospital Materno Infantil Ramón Sardá; Argentina. Organizacion Mundial de la Salud; Argentina
Fil: Cosentino, Viviana Raquel. Centro de Educación Médica e Investigaciones Clínicas “Norberto Quirno”; Argentina
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. 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
Fil: Murray, Jeffrey C.. University of Iowa; Estados Unidos
Fil: Wehby, George. University of Iowa; 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
description Reports of birth defects rates may focus on defects observed in the newborn period or include defects diagnosed at older ages. However, little information is available on the rates of additional anomalies detected after birth or on the ages at which such anomalies are diagnosed. The aims of this work were to describe the initial diagnoses of oral clefts, isolated or associated with other defects, in newborn infants ascertained in hospitals of the ECLAMC network, and diagnostic changes that occurred due to detection of additional defects during a 1-year follow-up period. Seven hundred ten liveborn infants with cleft lip only (CLO), cleft lip with cleft palate (CLP), or cleft palate (CP) were ascertained between 2003 and 2005. Prevalence estimates of isolated and associated (ASO) clefts, diagnoses in infants with associated clefts, and the percentage of isolated clefts that were reclassified as associated were established. Birth prevalence estimates (per 1,000) were as follows: Total: 1.7; CLP: 0.94 (ASO=23.5%); CP: 0.46 (ASO=42.3%); CLO: 0.28 (ASO=7.6%). Initial diagnoses in infants with associated clefts included 38 infants with chromosomal abnormalities, 33 with non-chromosomal syndromes, 16 with malformation sequences, and 98 with multiple anomalies of unknown etiology. Seven percent of newborns initially classified as isolated were later reclassified as associated. Ten infants without associated defects or clinically suspected syndromes were diagnosed as syndromic only through laboratory findings or family history, illustrating the difference between the terms associated versus isolated, which refers to presence or absence of associated anomalies, and syndromic versus non-syndromic, which refers to etiology.
publishDate 2011
dc.date.none.fl_str_mv 2011-07
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/11336/95465
Rittler, Monica; Cosentino, Viviana Raquel; López Camelo, Jorge Santiago; Murray, Jeffrey C.; Wehby, George; et al.; Associated anomalies among infants with oral clefts at birth and during a 1-year follow-up; Wiley-liss, Div John Wiley & Sons Inc; American Journal of Medical Genetics Part A; 155; 7; 7-2011; 1588-1596
1552-4825
CONICET Digital
CONICET
url http://hdl.handle.net/11336/95465
identifier_str_mv Rittler, Monica; Cosentino, Viviana Raquel; López Camelo, Jorge Santiago; Murray, Jeffrey C.; Wehby, George; et al.; Associated anomalies among infants with oral clefts at birth and during a 1-year follow-up; Wiley-liss, Div John Wiley & Sons Inc; American Journal of Medical Genetics Part A; 155; 7; 7-2011; 1588-1596
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/PMC3650830/
info:eu-repo/semantics/altIdentifier/url/https://onlinelibrary.wiley.com/doi/abs/10.1002/ajmg.a.34046
info:eu-repo/semantics/altIdentifier/doi/10.1002/ajmg.a.34046
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/pdf
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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score 13.22299

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