title: Beckwith Wiedemann syndrome: presentation of a case report.
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.
authors.affiliation: Department of Oral Surgery and Maxillofacial Traumatology for Children. Hospital San Juan de Dios. gonzalo.narea79@gmail.com
authors.forename: Gonzalo
authors.initials: G
authors.lastname: Narea Matamala
authors.forename: María de los Angeles
authors.initials: Mde L
authors.lastname: Fernández Toro
authors.forename: Elías
authors.initials: E
authors.lastname: Villalabeitía Ugarte
authors.forename: Mirtha
authors.initials: M
authors.lastname: Landaeta Mendoza
mesh_terms: D001506:Beckwith-Wiedemann Syndrome / Q000175:diagnosis*; D006801:Humans; D007223:Infant; D008297:Male