Noonan syndrome and implications related to endocrine follow-up and coordination of care

Noonan syndrome (NS) is a genetic condition with a prevalence of 1:1000 -2500. NS is a variably expressed, multisystem disorder. Individuals may experience blood clotting abnormalities, congenital heart defects including hypertrophic cardiomyopathy and pulmonary valve stenosis, malformations of lymph vessels, short stature, autoimmune thyroiditis, impaired feeding with failure to thrive, and learning disorders. Due to the inconsistencies in presentation, these patients require multidisciplinary care including pediatric endocrinology.
Source: Journal of Pediatric Nursing - Category: Nursing Authors: Source Type: research