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FREQUENCY OF HOLOPROSENCEPHALY IN CHILE

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

dc.contributoren-US
dc.contributores-ES
dc.creatorNazer Herrera, Julio; Hospital Clínico de la Universidad de Chile
dc.creatorCifuentes Ovalle, Lucía
dc.creatorCortez López, Andrea
dc.date2015-07-23
dc.date.accessioned2019-11-11T18:26:19Z
dc.date.available2019-11-11T18:26:19Z
dc.identifierhttp://www.revistamedicadechile.cl/ojs/index.php/rmedica/article/view/4038
dc.identifier.urihttps://revistaschilenas.uchile.cl/handle/2250/110629
dc.descriptionBackground: 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).en-US
dc.descriptionBackground: 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).es-ES
dc.formatapplication/pdf
dc.languagespa
dc.publisherRevista Médica de Chilees-ES
dc.relationhttp://www.revistamedicadechile.cl/ojs/index.php/rmedica/article/view/4038/1346
dc.relationhttp://www.revistamedicadechile.cl/ojs/index.php/rmedica/article/downloadSuppFile/4038/17106
dc.relationhttp://www.revistamedicadechile.cl/ojs/index.php/rmedica/article/downloadSuppFile/4038/17107
dc.relationhttp://www.revistamedicadechile.cl/ojs/index.php/rmedica/article/downloadSuppFile/4038/17130
dc.relationhttp://www.revistamedicadechile.cl/ojs/index.php/rmedica/article/downloadSuppFile/4038/17131
dc.relationhttp://www.revistamedicadechile.cl/ojs/index.php/rmedica/article/downloadSuppFile/4038/17132
dc.relationhttp://www.revistamedicadechile.cl/ojs/index.php/rmedica/article/downloadSuppFile/4038/18015
dc.sourceRevista Médica de Chile; Vol. 143, núm. 7 (2015): JULIO 2015es-ES
dc.source0034-9887
dc.subjectCyclopia; Holoprosencephaly; Nervous system malformationsen-US
dc.subjectCyclopia; Holoprosencephaly; Nervous system malformationses-ES
dc.titleFREQUENCY OF HOLOPROSENCEPHALY IN CHILEen-US
dc.titleECLAMC: 41 años de vigilancia de la Holoprosencefalia en Chile. Período 1972-2012es-ES
dc.typeinfo:eu-repo/semantics/article
dc.typeinfo:eu-repo/semantics/publishedVersion
dc.typees-ES


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