Noonan syndrome. A review.

Abstract:

: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.

journal_name

Minerva Pediatr

journal_title

Minerva pediatrica

authors

Cesur Aydin K,Ozcan I

subject

Has Abstract

pub_date

2008-06-01 00:00:00

pages

343-6

issue

3

eissn

0026-4946

issn

1827-1715

journal_volume

60

pub_type

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  • [Procedural pain perception of preterm newborn in neonatal intensive care unit: assessment and non-pharmacological approaches].

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    authors: Bernardini V,De Liso P,Santoro F,Allemand F,Allemand A

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