Reporte de un caso de síndrome de Noonan diagnosticado en atención primaria / A case report of Noonan syndrome diagnosed in primary healthcare
Medwave
;
20(1): e7826, 2020.
Article
in English, Spanish
| LILACS
| ID: biblio-1087890
RESUMEN
El síndrome de Noonan es un trastorno genético de herencia autosómica dominante, de expresión fenotípica variable. Pertenece al grupo de las enfermedades conocidas como rasopatías, trastornos producido por las mutaciones en los genes RAS. Los pacientes desarrollan síntomas como dismorfismo facial, talla baja, enfermedad cardíaca congénita, alteraciones músculos esqueléticas y discapacidad intelectual. En el presente reporte, se describe un caso de diagnóstico del síndrome de Noonan en un paciente de 14 años, realizado a nivel de atención primaria en Ecuador. El síndrome se identificó mediante diagnóstico clínico, permitiendo su derivación al segundo y tercer nivel de salud para una atención especializada.
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.
Full text:
Available
Index:
LILACS (Americas)
Main subject:
Primary Health Care
/
Noonan Syndrome
Type of study:
Diagnostic study
/
Prognostic study
Limits:
Adolescent
/
Humans
Country/Region as subject:
South America
/
Ecuador
Language:
English
/
Spanish
Journal:
Medwave
Journal subject:
Medicine
Year:
2020
Type:
Article
Affiliation country:
Ecuador
Institution/Affiliation country:
Universidad Técnica de Ambato/EC
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