Pediatr. praxi. 2022;23(2):124-126 | DOI: 10.36290/ped.2022.026

A case report of Noonan´s syndrome with pulmonary valvar stenosis

MUDr. Alžběta Palátová, doc. MUDr. Eva Klásková, Ph.D., MUDr. Sabina Kaprálová
Dětská klinika, LF UP a FN Olomouc

Noonan syndrome is a genetic disorder characterised by short stature, typical facial dysmorphology and congenital heart defects. It is clasified in the group of diseases called RASopathies. A case of infant with pulmonary stenosis suffering from failure to thrive is discussed. It was found out that Noonan syndrome was the cause. Current knowledge of etiology, diagnostics and prevalence of Noonan syndrom in children with pulmonary stenosis is discussed.

Keywords: Noonan syndrome, growth restriction, congenital heart defects.

Published: April 12, 2022  Show citation

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Palátová A, Klásková E, Kaprálová S. A case report of Noonan´s syndrome with pulmonary valvar stenosis. Pediatr. praxi. 2022;23(2):124-126. doi: 10.36290/ped.2022.026.
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