Evaluation of clinical manifestations of Noonan Syndrome in IRAN

Vakili, Rahim and Eshraghi, Peyman and Mottaghi, Hasan and Molkara, Sara (2014) Evaluation of clinical manifestations of Noonan Syndrome in IRAN. medical journal of mashhad university of medical sciences, 57 (3). pp. 555-561.

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Abstract

Introduction: Noonan Syndrome has been described by Jacquelin Noonan about 40 years ago which was described with short stature, dysmorfic face & cardiac abnormalities. There is wide spectrum of Noonan�s phenotypes. Frequency of this syndrome is about 1/1000-1/2500 worldwide. Specific character on the face of these patients, malformed chest and vertebrae, short stature, heart abnormalities which are usually with pulmonary stenosis & hypertrophic Cardiomyopathy (HOCM) are also common. Subjects and Methods: In this article we studied frequency of major clinical manifestations in 20 patients with Noonan Syndrome which were diagnosed in Pediatric Endocrinology Clinic of Imam Reza Hospital during 4 years. Results: Typical face was presented in 70, short stature in 70, major heart abnormality in 45 and other deformities in 25 and about 50 of them were mentally retarded. Conclusion: Although general manifestations of Noonan syndrome in patients seemed to be similar to other countries but incidence and prevalence of each of the symptoms were significantly different. For better diagnosis of this syndrome attention to these symptoms, and however modification of diagnostic criteria seems to be essential.

Item Type: Article
Subjects: WA Public Health
Divisions: Journals > Medical J Mashhad University of Medical Sciences
Depositing User: mjmums mjmums
Date Deposited: 02 Oct 2017 15:20
Last Modified: 02 Oct 2017 15:20
URI: http://eprints.mums.ac.ir/id/eprint/7087

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