REVIEWS   

Minerva Pediatrica 2008 June;60(3):343-6

Copyright © 2008 EDIZIONI MINERVA MEDICA

language: English

Noonan syndrome. A review

Cesur Aydin K., Ozcan I.

Faculty of Dentistry, University of Istanbul Department of Oral Diagnosis and Radiology, Fatih, Istanbul, Turkey

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 1:1 000 and 1:2 500 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.