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Toe walk in Noonan syndrome- A case report

Author: 
Padmanabha Kumar, G., Soma Sekhar Goud, E.V., Shanthi, M. and Ratnasothy, S.
Subject Area: 
Health Sciences
Abstract: 

Noonan syndrome (NS) is a rare genetic disorder, which may occur as sporadic or inherited as autosomal dominant or recessive trait. It is a multifactorial condition that is characterized by a series of congenital malformations including facial anomalies, post-natal growth development, webbing of neck, pulmonary stenosis and undescended testicles in boys. NS can be confirmed genetically by the presence of any of the known mutations. However, despite identification of fourteen causative genes, the absence of a known mutation will not exclude the diagnosis, as there are more undiscovered genes that cause NS. Thus, the diagnosis of NS is still based on clinical features. The present report describes a case of this syndrome without cardiac abnormalities but with characteristic bilateral toe walking.

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