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خرید پکیج
تعداد آیتم قابل مشاهده باقیمانده : -21 مورد

Diagnostic features of Noonan syndrome

Diagnostic features of Noonan syndrome
Feature A (Major) B (Minor)
  1. Facial
Typical facies (facial features of NS vary over time and may have only subtle differences). Expert assessment is therefore required.[1] Suggestive facies
  1. Cardiac
Pulmonary valve stenosis and/or hypertrophic cardiomyopathy Other cardiac defect
  1. Height
<3rd centile <10th centile
  1. Chest wall
Pectus carinatum/excavatum Broad thorax
  1. Family history
First-degree relative with definite NS First-degree relative with features suggestive of NS
  1. Other
Mild developmental delay, cryptorchidism, and lymphatic dysplasia Mild developmental delay, cryptorchidism, or lymphatic dysplasia
 
Definitive clinical NS diagnosis is possible for individuals meeting:
  • Criterion 1A + (one of 2A through 6A or two of 2B through 6B)
  • Or criterion 1B + (two of 2A through 6A or three of 2B through 6B)
Molecular confirmation of the diagnosis is usually attempted. Given the number of different genes where pathogenic variants can cause NS, the appropriateness and method of gene testing should be decided by a clinical geneticist. Variant testing confirms the diagnosis of NS in 90% of cases; in 10%, the responsible gene remains unknown. The number of patients identified with NS by molecular genetic test, rather than having a prior clinical diagnosis, is rising with the use of wider-scale gene panels for diagnosis of developmental disorders.
NS: Noonan syndrome.
Reference:
  1. Allanson JE. Noonan syndrome. J Med Genet 1987; 24:9.
Modified from: van der Burgt I, Berends E, Lommen E, et al. Clinical and molecular studies in a large Dutch family with Noonan syndrome. Am J Med Genet 1994; 53:187. https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.1320530213. Copyright © 1994 Wiley-Liss, Inc. Reproduced with permission of John Wiley & Sons Inc. This image has been provided by or is owned by Wiley. Further permission is needed before it can be downloaded to PowerPoint, printed, shared or emailed. Please contact Wiley's permissions department either via email: [email protected] or use the RightsLink service by clicking on the 'Request Permission' link accompanying this article on Wiley Online Library (http://onlinelibrary.wiley.com).
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