منابع مشابه
Noonan syndrome – a new survey
Noonan syndrome (NS) is an autosomal dominant disorder with vast heterogeneity in clinical and genetic features. Various symptoms have been reported for this abnormality such as short stature, unusual facial characteristics, congenital heart abnormalities, developmental complications, and an elevated tumor incidence rate. Noonan syndrome shares clinical features with other rare conditions, incl...
متن کاملNoonan syndrome.
Noonan syndrome is a common autosomal dominant condition caused by multiple genes in the RasMAPK pathway. The adult phenotype can be extremely subtle, and many adults are diagnosed only after the birth of a more obviously affected child. Whether diagnosis is made in childhood or adulthood, initial and ongoing evaluation of many systems can have considerable health benefits.
متن کاملNoonan syndrome
Noonan Syndrome (NS) is characterised by short stature, typical facial dysmorphology and congenital heart defects. The incidence of NS is estimated to be between 1:1000 and 1:2500 live births. The main facial features of NS are hypertelorism with down-slanting palpebral fissures, ptosis and low-set posteriorly rotated ears with a thickened helix. The cardiovascular defects most commonly associa...
متن کاملNoonan syndrome.
Noonan syndrome is a common genetic disorder that causes multiple congenital abnormalities and a large number of potential health conditions. Most affected individuals have characteristic facial features that evolve with age; a broad, webbed neck; increased bleeding tendency; and a high incidence of congenital heart disease, failure to thrive, short stature, feeding difficulties, sternal deform...
متن کاملNoonan Syndrome
The main facial features of NS are hypertelorism (an abnormally increased distance between two organs or bodily parts, usually referring to an increased distance between the eyes), ptosis (a drooping or falling of the upper eyelid) and low-set rotated ears (Pic. 2) situated behind with a thickened helix (the prominent rim of the auricle). The cardiovascular defects most commonly associated with...
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ژورنال
عنوان ژورنال: Archives of Medical Science
سال: 2017
ISSN: 1734-1922
DOI: 10.5114/aoms.2017.64720