Clinical and molecular analysis of Noonan syndrome in Indonesia: a case report

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Iffa Mutmainah
Willy Nillesen
Farmaditya Mundhofir
Tri Winarni
Ineke van der Burgt
Helger Yntema
Sultana Faradz

Abstract

Noonan syndrome (NS; OMIM#163950) is a relatively common autosomal dominant disorder with a worldwide prevalence of approximately 1:1,000 to 1:2,500. The syndrome is characterized by distinctive facial features, congenital heart defects (CHD), and short stature. Distinctive facial features consist of a broad and high forehead, hypertelorism, downslanting palpebral fissures, a high arched palate, low set and posteriorly rotated ears with a thick helix, and a short neck with excess nuchal skin and low posterior hairline. Additional relatively frequent features include chest deformities, cryptorchidism in males, mild intellectual disability, and bleeding diathesis.1,2
In 2001, missense mutations in

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How to Cite
1.
Mutmainah I, Nillesen W, Mundhofir F, Winarni T, van der Burgt I, Yntema H, Faradz S. Clinical and molecular analysis of Noonan syndrome in Indonesia: a case report. PI [Internet]. 12May2016 [cited 17Sep.2019];56(1):62-. Available from: https://paediatricaindonesiana.org/index.php/paediatrica-indonesiana/article/view/81
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Articles
Received 2016-04-01
Accepted 2016-04-01
Published 2016-05-12