Noonan Syndrome: Introduction and Basic Clinical FeaturesRohrer T.
Department of Pediatrics and Neonatology, Saarland University Hospital, Homburg/Saar, Germany
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.
T. Rohrer, MD
Department of Pediatrics and Neonatology, Saarland University Hospital
Kirrberger Strasse 1, Geb. 9, DE–66421 Homburg/Saar (Germany)
Tel. +49 6841 162 8315, Fax +49 6841 162 8433
Published online: December 22, 2009
Number of Print Pages : 5
Number of Figures : 0, Number of Tables : 1, Number of References : 37
Hormone Research (From Developmental Endocrinology to Clinical Research)
Vol. 72, No. Suppl. 2, Year 2009 (Cover Date: December 2009)
Journal Editor: Czernichow P. (Paris)
ISSN: 0301-0163 (Print), eISSN: 1423-0046 (Online)
For additional information: http://www.karger.com/HRE