Vol. 24 - Num. 96
Elena Bermúdez de Castro Lópeza
aPediatra. CS San Blas. Parla. Madrid. España.
Correspondence: E Bermúdez. E-mail: firstname.lastname@example.org
Reference of this article: Bermúdez de Castro López E. Beckwith Wiedemann syndrome in Primary Care. Example of the importance of associationism in rare diseases . Rev Pediatr Aten Primaria. 2022;24:429-34.
Published in Internet: 29-12-2022 - Visits: 1316
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
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