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Beckwith Wiedemann Syndrome : presentation of a case report

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Beckwith Wiedemann Syndrome : presentation of a case report

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dc.contributor.author Narea Matamala, Gonzalo es
dc.contributor.author Fernández Toro, María de los Ángeles es
dc.contributor.author Villalabeitía Ugarte, Elías es
dc.contributor.author Landaeta Mendoza, Mirtha es
dc.date.accessioned 2017-09-27T09:59:55Z
dc.date.available 2017-09-27T09:59:55Z
dc.date.issued 2008 es
dc.identifier.citation Narea Matamala, Gonzalo ; Fernández Toro, María de los Ángeles ; Villalabeitía Ugarte, Elías ; Landaeta Mendoza, Mirtha. Beckwith Wiedemann Syndrome : presentation of a case report. En: Medicina oral, patología oral y cirugía bucal. Ed. inglesa, 13 10 2008: 6- es
dc.identifier.uri http://hdl.handle.net/10550/61179
dc.description.abstract Beckwith Wiedemann Syndrome (BWS) is a rare congenital disease of low prevalence. However, it presents a high prevalence within the genetic pathologies of overgrowth. This syndrome presents typical manifestations such as macroglossia, macrosomy at birth, omphalocele and defects of the anterior abdominal wall. Its origin is known to be genetic, but its mechanism of generation is not clear. This syndrome has been the object of wide studies since investigators have established a relationship between the methods of assisted fertilization (assisted reproduction treatment, ART) and its appearance. Currently, research is oriented towards the improvement of the prenatal diagnostic techniques, which would allow a preparation of the multidisciplinary medical team to treat the pathologies with which these patients are born. Next we present the case of a 1 year-old child who consults this service with a diagnosis of macroglossia associated with BWS. es
dc.title Beckwith Wiedemann Syndrome : presentation of a case report es
dc.type journal article es_ES
dc.subject.unesco UNESCO::CIENCIAS MÉDICAS es
dc.identifier.doi es
dc.type.hasVersion VoR es_ES

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