首页|Noonan syndrome: Introduction and basic clinical features
Noonan syndrome: Introduction and basic clinical features
扫码查看
点击上方二维码区域，可以放大扫码查看
原文链接
NSTL
Karger
Noonan syndrome (NS) is a fairly common (1 per 1,000-2,500 live births) autosomal dominantly inherited disorder and the most common syndromal cause of congenital heart disease after Down's syndrome. The clinical features vary with age, but typical signs of NS include characteristic facial features with hypertelorism, down-slanting palpebral fissures, low-set posteriorly rotated ears, chest and spinal deformities, short stature, specific heart defects, learning disabilities and mild mental retardation. This article gives a brief introduction to NS and its basic clinical features using the established and generally accepted NS scoring system based on family history and facial, cardiac, growth, chest wall and other criteria. Aspects discussed include the definition, epidemiology, etiology, diagnosis and genetics of NS, as well as growth, skeletal and gonadal anomalies, pubertal development, ophthalmic and cutaneous abnormalities and the incidence of cancer in patients with NS.
Clinical featuresNoonan syndromeReview
Rohrer,T.
展开 >
Department of Pediatrics and Neonatology, Saarland University Hospital, Kirrberger Strasse 1, Geb
NSTL
Karger
