Clinical and molecular analysis of Noonan syndrome in Indonesia: a case report
| Main Authors: | Mutmainah, Iffa, Nillesen, Willy, Mundhofir, Farmaditya, Winarni, Tri, van der Burgt, Ineke, Yntema, Helger, Faradz, Sultana |
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| Format: | Article info application/pdf eArticle |
| Bahasa: | eng |
| Terbitan: |
Indonesian Pediatric Society
, 2016
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| Online Access: |
https://paediatricaindonesiana.org/index.php/paediatrica-indonesiana/article/view/81 https://paediatricaindonesiana.org/index.php/paediatrica-indonesiana/article/view/81/60 |
Daftar Isi:
- 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