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

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

doi:10.14238/pi56.1.2016.62-6

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

Authors

Iffa Mutmainah Division of Human Genetics, Center for Biomedical Research (CEBIOR), Diponegoro University Medical School, Semarang, Indonesia, and the Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands
Willy Nillesen Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands
Farmaditya Mundhofir Division of Human Genetics, Center for Biomedical Research (CEBIOR), Diponegoro University Medical School, Semarang, Indonesia
Tri Winarni Division of Human Genetics, Center for Biomedical Research (CEBIOR), Diponegoro University Medical School, Semarang, Indonesia
Ineke van der Burgt Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands
Helger Yntema Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands
Sultana Faradz Division of Human Genetics, Center for Biomedical Research (CEBIOR), Diponegoro University Medical School, Semarang, Indonesia

DOI:

https://doi.org/10.14238/pi56.1.2016.62-6

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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Published

2016-05-12

How to Cite

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]. 2016May12 [cited 2025Apr.16];56(1):62-6. Available from: https://paediatricaindonesiana.org/index.php/paediatrica-indonesiana/article/view/81

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Vol. 56 No. 1 (2016): January 2016

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Received 2016-04-01
Accepted 2016-04-01
Published 2016-05-12