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Vol. 72, Suppl. 2, 2009
Issue release date: December 2009
Section title: Paper
Horm Res 2009;72(suppl 2):3–7
(DOI:10.1159/000243772)

Noonan Syndrome: Introduction and Basic Clinical Features

Rohrer T.
Department of Pediatrics and Neonatology, Saarland University Hospital, Homburg/Saar, Germany

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Article / Publication Details

First-Page Preview
Abstract of Paper

Published online: 12/22/2009

Number of Print Pages: 5
Number of Figures: 0
Number of Tables: 1

ISSN: 1663-2818 (Print)
eISSN: 1663-2826 (Online)

For additional information: http://www.karger.com/HRP

Abstract

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.


  

Author Contacts

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
E-Mail kitroh@uniklinikum-saarland.de

  

Article Information

Published online: December 22, 2009
Number of Print Pages : 5
Number of Figures : 0, Number of Tables : 1, Number of References : 37

  

Publication Details

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


Article / Publication Details

First-Page Preview
Abstract of Paper

Published online: 12/22/2009

Number of Print Pages: 5
Number of Figures: 0
Number of Tables: 1

ISSN: 1663-2818 (Print)
eISSN: 1663-2826 (Online)

For additional information: http://www.karger.com/HRP


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Drug Dosage: The authors and the publisher have exerted every effort to ensure that drug selection and dosage set forth in this text are in accord with current recommendations and practice at the time of publication. However, in view of ongoing research, changes in goverment regulations, and the constant flow of information relating to drug therapy and drug reactions, the reader is urged to check the package insert for each drug for any changes in indications and dosage and for added warnings and precautions. This is particularly important when the recommended agent is a new and/or infrequently employed drug.
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