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Published on February 27, 2020 | http://doi.org/10.5867/medwave.2020.01.7826

A case report of Noonan syndrome diagnosed in primary healthcare

Reporte de un caso de síndrome de Noonan diagnosticado en atención primaria

Jenny Villaroel-Vargas, Lucía Molina-Vargas, Andrea Zurita-Leal, Alicia Zavala-Calahorrano

Abstract

Noonan syndrome is an autosomal dominant inherited disorder with variable phenotypic expression. It belongs to the group of diseases known as RASopathies, which are characterized by mutations in the RAS genes. Patients develop symptoms such as facial dysmorphism, short stature, congenital heart disease, musculoskeletal disorders and mental retardation. In this article, we report a case of Noonan syndrome in a 14-year-old patient, diagnosed in a primary health center in Ecuador. The syndrome was identified through clinical diagnosis, after which the patient was referred to the secondary and tertiary levels for specialized care.

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Authors

Jenny Villaroel-Vargas

Facultad de Ciencias de la Salud, Universidad Técnica de Ambato, Ambato, Ecuador

Lucía Molina-Vargas

Facultad de Ciencias de la Salud, Universidad Técnica de Ambato, Ambato, Ecuador

Andrea Zurita-Leal

Facultad de Ciencias de la Salud, Universidad Técnica de Ambato, Ambato, Ecuador

Alicia Zavala-Calahorrano

Facultad de Ciencias de la Salud, Universidad Técnica de Ambato, Ambato, Ecuador

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History

Citation Villaroel-Vargas J, Molina-Vargas L, Zurita-Leal A, Zavala-Calahorrano A. A case report of Noonan syndrome diagnosed in primary healthcare. Medwave 2020;20(02):e7826 doi: 10.5867/medwave.2020.01.7826

Submission date 23/06/2019

Acceptance date 14/01/2020

Publication date 27/02/2020

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Notes

Keywords

Noonan syndrome, congenital heart defects, genetic diseases

Origin and peer review

Con revisión por pares externa, por tres árbitros a doble ciego

References

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