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A case report of Noonan syndrome diagnosed in primary healthcare
- Source :
- Medwave, Vol 20, Iss 01, Pp e7826-e7826 (2020)
- Publication Year :
- 2020
- Publisher :
- Medwave Estudios Limitada, 2020.
-
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.
Details
- Language :
- English, Spanish; Castilian
- ISSN :
- 07176384
- Volume :
- 20
- Issue :
- 01
- Database :
- Directory of Open Access Journals
- Journal :
- Medwave
- Publication Type :
- Academic Journal
- Accession number :
- edsdoj.50c18143e0df44a1872d948197c5b766
- Document Type :
- article
- Full Text :
- https://doi.org/10.5867/medwave.2020.01.7826