Neurofibromatosis-Noonan syndrome
โ Scribed by Carey, John C.
- Publisher
- John Wiley and Sons
- Year
- 1998
- Tongue
- English
- Weight
- 4 KB
- Volume
- 75
- Category
- Article
- ISSN
- 0148-7299
- DOI
- 10.1002/(sici)1096-8628(19980123)75:3<263::aid-ajmg7>3.0.co;2-r
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๐ SIMILAR VOLUMES
Congenital heart defect (CHD) is present in half of the propositi with Noonan syndrome (NS). Aortic coarctation (AC) is rarely seen in NS, since only three male patients with NS and AC have been previously reported. On the other hand, AC is common in the Ullrich-Turner syndrome, an aneuploidy disord
We report on an infant with severe Noonan syndrome, chylothoraces, and hepatosplenomegaly who suffered two episodes of cerebral infarction before age 6 months. No underlying cause for these events was found. The presentation is discussed in relationship to other reports of stroke in Noonan syndrome
Neurofibromatosis type 1 (NF1), a genetic disorder with neuroectodermal involvement, demonstrates phenotypic overlap in some patients with Noonan syndrome (NS), ultimately resulting in the so-called neurofibromatosis-Noonan syndrome (NF-NS). A strong association of the two phenotypic traits was rece
We present two patients with multiple characteristics that occur in Noonan phenotype and cavernous hemangioma of the brain. The first patient, who had been diagnosed radiographically as having a cavernous hemangioma in the left basal ganglia at age 15 years, developed massive intracerebral hemorrhag