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Pediatría Atención Primaria
Print version ISSN 1139-7632
Abstract
BERMUDEZ-DE CASTRO-LOPEZ, Elena. Beckwith Wiedemann syndrome in Primary Care. Example of the importance of associationism in rare diseases. Rev Pediatr Aten Primaria [online]. 2022, vol.24, n.96, pp.429-434. Epub Mar 04, 2024. ISSN 1139-7632.
Abstract
Beckwith Wiedemann syndrome is a rare disease with a prevalence of 1 in 10,340 persons. It is characterized by macrosomia, macroglossia, abdominal wall defects, organomegaly, lateralized overgrowth and an increased risk of tumor development in the first years of life. This article presents an updated protocol for the management of this pathology in the primary care clinic. On the other hand, this syndrome serves as an example to illustrate the important role that patient associations play in supporting these individuals and their families, as well as in increasing the visibility of rare diseases and encouraging research.
Keywords : Beckwith Wiedemann Syndrome; Macroglossia; Rare Diseases.