ECLAMC: 41 años de vigilancia de la holoprosencefalia en Chile. Período 1972-2012

Background: Holoprosencephaly is a structural anomaly of the brain that consists in a defect of the prosencephalon development that leads to face and neurological defects of variable intensity. Aim: To estimate holoprosencephaly prevalence at birth. Patients and Methods: All cases of holoprosencepha...

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Autores principales:	Nazer Herrera,Julio, Cifuentes Ovalle,Lucía, Cortez López,Andrea
Lenguaje:	Spanish / Castilian
Publicado:	Sociedad Médica de Santiago 2015
Materias:	Cyclopia Holoprosencephaly Nervous system malformations
Acceso en línea:	http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0034-98872015000700008
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spelling	oai:scielo:S0034-988720150007000082015-09-03ECLAMC: 41 años de vigilancia de la holoprosencefalia en Chile. Período 1972-2012Nazer Herrera,JulioCifuentes Ovalle,LucíaCortez López,Andrea Cyclopia Holoprosencephaly Nervous system malformations Background: Holoprosencephaly is a structural anomaly of the brain that consists in a defect of the prosencephalon development that leads to face and neurological defects of variable intensity. Aim: To estimate holoprosencephaly prevalence at birth. Patients and Methods: All cases of holoprosencephaly, born alive or stillbirths, registered in the 15 Chilean Hospitals of the Latin American Collaborative Study of Congenital Malformations (ECLAMC) between 1972 and 2012, were studied. Craniofacial and other anomalies found in newborns affected by holoprosencephaly are described. Results: Fifty five cases of holoprosencephaly (58% males) were found among the 798.222 registered births (rendering a prevalence at birth of 0.69 per 10.000 newborns). The most common cranial defect was medial cleft lip with cleft palate (27.3%), bilateral cleft lip (11%) or both (38.2%), cyclopia (14%), single nostril (10.9%) and proboscis (9.1%). Eleven percent cases had a trisomy 13. A slight increase in prevalence over time was observed. Conclusions: Holoprosencephaly has a low frequency in Chile and is associated to trisomy 13. The increase in prevalence could be explained by a better prenatal diagnosis (ultrasonography).info:eu-repo/semantics/openAccessSociedad Médica de SantiagoRevista médica de Chile v.143 n.7 20152015-07-01text/htmlhttp://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0034-98872015000700008es10.4067/S0034-98872015000700008
institution	Scielo Chile
collection	Scielo Chile
language	Spanish / Castilian
topic	Cyclopia Holoprosencephaly Nervous system malformations
spellingShingle	Cyclopia Holoprosencephaly Nervous system malformations Nazer Herrera,Julio Cifuentes Ovalle,Lucía Cortez López,Andrea ECLAMC: 41 años de vigilancia de la holoprosencefalia en Chile. Período 1972-2012
description	Background: Holoprosencephaly is a structural anomaly of the brain that consists in a defect of the prosencephalon development that leads to face and neurological defects of variable intensity. Aim: To estimate holoprosencephaly prevalence at birth. Patients and Methods: All cases of holoprosencephaly, born alive or stillbirths, registered in the 15 Chilean Hospitals of the Latin American Collaborative Study of Congenital Malformations (ECLAMC) between 1972 and 2012, were studied. Craniofacial and other anomalies found in newborns affected by holoprosencephaly are described. Results: Fifty five cases of holoprosencephaly (58% males) were found among the 798.222 registered births (rendering a prevalence at birth of 0.69 per 10.000 newborns). The most common cranial defect was medial cleft lip with cleft palate (27.3%), bilateral cleft lip (11%) or both (38.2%), cyclopia (14%), single nostril (10.9%) and proboscis (9.1%). Eleven percent cases had a trisomy 13. A slight increase in prevalence over time was observed. Conclusions: Holoprosencephaly has a low frequency in Chile and is associated to trisomy 13. The increase in prevalence could be explained by a better prenatal diagnosis (ultrasonography).
author	Nazer Herrera,Julio Cifuentes Ovalle,Lucía Cortez López,Andrea
author_facet	Nazer Herrera,Julio Cifuentes Ovalle,Lucía Cortez López,Andrea
author_sort	Nazer Herrera,Julio
title	ECLAMC: 41 años de vigilancia de la holoprosencefalia en Chile. Período 1972-2012
title_short	ECLAMC: 41 años de vigilancia de la holoprosencefalia en Chile. Período 1972-2012
title_full	ECLAMC: 41 años de vigilancia de la holoprosencefalia en Chile. Período 1972-2012
title_fullStr	ECLAMC: 41 años de vigilancia de la holoprosencefalia en Chile. Período 1972-2012
title_full_unstemmed	ECLAMC: 41 años de vigilancia de la holoprosencefalia en Chile. Período 1972-2012
title_sort	eclamc: 41 años de vigilancia de la holoprosencefalia en chile. período 1972-2012
publisher	Sociedad Médica de Santiago
publishDate	2015
url	http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0034-98872015000700008
work_keys_str_mv	AT nazerherrerajulio eclamc41anosdevigilanciadelaholoprosencefaliaenchileperiodo19722012 AT cifuentesovallelucia eclamc41anosdevigilanciadelaholoprosencefaliaenchileperiodo19722012 AT cortezlopezandrea eclamc41anosdevigilanciadelaholoprosencefaliaenchileperiodo19722012
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ECLAMC: 41 años de vigilancia de la holoprosencefalia en Chile. Período 1972-2012

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