Clinical and molecular analysis of Noonan syndrome in Indonesia: a case report
| Autor: | Iffa Mutmainah, Willy Nillesen, Farmaditya Mundhofir, Tri Winarni, Ineke van der Burgt, Helger Yntema, Sultana Faradz |
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| Jazyk: | angličtina |
| Rok vydání: | 2016 |
| Předmět: | |
| Zdroj: | Paediatrica Indonesiana, Vol 56, Iss 1, Pp 62-6 (2016) |
| Druh dokumentu: | article |
| ISSN: | 0030-9311 2338-476X |
| DOI: | 10.14238/pi56.1.2016.62-6 |
| Popis: | 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 |
| Databáze: | Directory of Open Access Journals |
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