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

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)

Paediatrica Indonesiana
Vol 56 No 1 (2016): January 2016

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.1,2In 2001, missense mutations in