Noonan syndrome. a review
Cesur Aydin, K.; Ozcan, I.
Minerva Pediatrica 60(3): 343-346
2008
ISSN/ISBN: 0026-4946 PMID: 18487980 Document Number: 615950
Noonan syndrome (NS) is a rare genetic disorder, revealing autosomal dominant trait. It is a multiface condition that is characterized by a series congenital malformations including facial anomalies, postnatal growth retardation, webbing of the neck, pectus excavatum/carinatum, pulmonic stenosis and undescended testicles in boys. The incidence of NS is estimated to be between 1:1000 and 1:2500 in all live births. A DNA test for mutation analysis can be carried out on blood, chorionic villi and amniotic fluid samples. Signs and symptoms lessen with age and most adults with NS do not require special medical care.