Noonan syndrome and related disorders
| Autor: | Jacqueline A. Noonan |
|---|---|
| Rok vydání: | 2005 |
| Předmět: |
musculoskeletal diseases
medicine.medical_specialty Pediatrics Heart disease business.industry Hypertrophic cardiomyopathy medicine.disease Short stature PTPN11 Stenosis Costello syndrome Internal medicine Pediatrics Perinatology and Child Health medicine Cardiology Noonan syndrome medicine.symptom Neurofibromatosis skin and connective tissue diseases Cardiology and Cardiovascular Medicine business |
| Zdroj: | Progress in Pediatric Cardiology. 20:177-185 |
| ISSN: | 1058-9813 |
| DOI: | 10.1016/j.ppedcard.2005.04.008 |
| Popis: | Noonan syndrome is a common multiple malformation syndrome seen in children with congenital heart disease. Recently, a mutation in the PTPN11 gene was found to be present in about 50% of individuals with Noonan syndrome. Over 80% of these patients have some form of congenital heart disease with pulmonary stenosis often associated with a dysplastic valve being, by far, the most common lesion. Hypertrophic cardiomyopathy occurs in 20–30%. Characteristic facies, chest deformity, short stature, undescended testes in the male and learning disabilities comprise the Noonan phenotype but there is wide phenotypic variation and a changing phenotype with age. This phenotype is noted in several other syndromes which share similar cardiac defects. These include LEOPARD, neurofibromatosis, Noonan syndrome, cardio-facio-cutaneous syndrome and Costello syndrome. A definitive diagnosis is particularly difficult in infancy. |
| Databáze: | OpenAIRE |
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