Online ISSN 2313-1519
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Abstract - Noonan syndrome an overview and a case description from Astana, Kazakhstan
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Sholpan Kairmukhanova, Adila Izgutdina, Galymzhan Kuatbay

Noonan syndrome is an autosomal dominant genetic disorder characterized by facial dysmorhpic features, short stature and heart defects, such as pulmonary valve stenosis and heart hypertrophy (Roberts et al., 2013). The pathologic features are caused by the genetic mutations in the RAS-MAPK pathway signaling proteins, such as PTPN11. These mutations also predispose Noonan patients to risks of developing cardiovascular, myeloproliferative, lymphatic system disorders. Therefore we recommend raising awareness and increasing vigilance for these cases as the Noonan syndrome patients require special care of a multidisciplinary team of healthcare professionals to address their multiple health concerns and improve their outcomes.

Volume 3, Number 45 (special issue) (2017)