Revista Biomédica Revisada Por Pares
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Palabras clave: Noonan syndrome, congenital heart defects, genetic diseases
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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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.
Autores:
Jenny Villaroel-Vargas[1], Lucía Molina-Vargas[1], Andrea Zurita-Leal[1], Alicia Zavala-Calahorrano[1]
Citación: 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(2):e7826 doi: 10.5867/medwave.2020.01.7826
Fecha de envío: 23/6/2019
Fecha de aceptación: 13/1/2020
Fecha de publicación: 26/2/2020
Origen: No solicitado
Tipo de revisión: Con revisión por pares externa, por tres árbitros a doble ciego
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