A Case of Noonan Syndrome Combined with Infundibular Pulmonic Stenosis

ABSTRACT

The Noonan syndrome is a rate clinical syndrome associated with similar congenital abnormalities, that is characteristics of Turner syndrome, such as short stature, webbed neck, low posterior hairline, cubitus valgus, shield chest or funnel chest, congenital features similar to Turner syndrome but with a normal karyotype, and Opitz et al. proposed the name "Noonan syndrome" for this condition in 1965. We experienced a 31-year old man with Noonan syndrome combined with valvular and infundibular pulmonic stenosis who had short stature, webbed neck and normal karyotype. So we report a case Noonan syndrome with a review of literature.