1/15. Are noonan syndrome and Noonan-like/multiple giant cell lesion syndrome distinct entities?We report on a family with typical clinical findings of noonan syndrome associated with giant cell lesions in maxilla and mandible.We discuss the obvious clinical overlap between noonan syndrome and Noonan-like/multiple giant cell lesion syndrome, and we give further clinical and molecular support that these two entities could be allelic conditions.- - - - - - - - - - ranking = 1keywords = giant (Clic here for more details about this article) |
2/15. A case of neurofibromatosis-noonan syndrome with a central giant cell granuloma.Neurofibromatosis Type 1 (NF1) is one of the most common autosomal dominant diseases affecting multiple systems including the vascular, skeletal, and central nervous system. noonan syndrome (NS) is an autosomal dominant genetic disorder, associated with musculoskeletal and skin manifestations. Coexistence of central giant cell lesions in patients with both NS and NF1 were reported in the literature. Development of multiple central giant cell lesions in a patient with a noonan syndrome has been referred to as Noonan-like syndrome. A few cases with features of NF1 and NS have been termed as NF1-NS. Here, we present a case of so-called NF-NS associated with a central giant cell lesion.- - - - - - - - - - ranking = 1.1666666666667keywords = giant (Clic here for more details about this article) |
3/15. A novel PTPN11 gene mutation bridges noonan syndrome, multiple lentigines/leopard syndrome and Noonan-like/multiple giant cell lesion syndrome.Noonan (NS) and multiple lentigines/LEOPARD syndromes (LS) have proved to be associated with distinct PTPN11 mutations. Noonan-like/multiple giant cell lesion syndrome (NLS) is a rare disease, characterised by short stature, facial dysmorphisms, congenital heart defect (CHD) and central giant cell lesions. PTPN11 gene mutations have been reported in a single NLS family and two sporadic patients. Here we report a patient with a complex phenotype progressing throughout the years from NS at birth towards LS and NLS. PTPN11 gene analysis disclosed a novel missense mutation (Ala461Thr) in exon 12, affecting the consensus sequence of the SHP2-active site. This observation joins together NS and LS to NLS into a unique genetic defect, broadening the clinical and molecular spectrum of PTPN11-related disorders.- - - - - - - - - - ranking = 1keywords = giant (Clic here for more details about this article) |
4/15. A case report of Noonan's syndrome with pulmonary valvar stenosis and coronary aneurysms.BACKGROUND: noonan syndrome is a rare disease, mainly presenting with malformations such as dysplasia and stenosis of the pulmonary valve, atrial septal defect and a typical pattern of hypertrophic cardiomyopathy. We report a case of noonan syndrome with giant coronary aneurysms. CASE REPORT: A young woman with the phenotypic characteristics of Noonan's syndrome presented with severe pulmonary stenosis and giant coronary aneurysms. Cross sectional echocardiography showed valvar and subvalvar pulmonary stenosis. The valve itself was thickened and dysplastic, a characteristic that is typical of Noonan's syndrome. In addition to the usual abnormalities of the pulmonary valve and the ventricular myocardium, the patient showed a wide spectrum of previously unreported coronary aneurysms. CONCLUSIONS: These additional findings support the hypothesis that a vasculitic process has been superimposed on the connective tissue defect associated with Noonan's syndrome. Furthermore, since the pathogenesis of the condition remains unclear, this case stresses the need to look carefully for abnormalities co-expressed in Noonan's syndrome.- - - - - - - - - - ranking = 0.33333333333333keywords = giant (Clic here for more details about this article) |
5/15. Bilateral central giant cell granulomas of the mandible in an 8-year-old girl with noonan syndrome (Noonan-like/multiple giant cell lesion syndrome).We report a case of an 8-year-old girl who presented with bilateral central giant cell granulomas of the posterior mandible. Characteristic facial features and a history of pulmonary stenosis led us to suspect a diagnosis of noonan syndrome. A medical geneticist confirmed this. This case report will discuss the salient features of this diagnosis.- - - - - - - - - - ranking = 1.5keywords = giant (Clic here for more details about this article) |
6/15. noonan syndrome with giant cell lesions.noonan syndrome is characterised by short stature, unusual facies, congenital heart disease, chest deformity and mild mental retardation. It may be sporadic or inherited as an autosomal dominant trait and occurs between one in 1000-2500. cherubism is a giant cell lesion of the jaws thought to be transmitted as an autosomal dominant trait. It is usually recognised by age two to four years, follows a variable course, and is not known to be related to other genetic disorders. The purpose of this article is to report a case of multiple giant cell lesions of the mandible that occurred in a patient with phenotypic features of noonan syndrome. The emerging relationship between these cherubism-like findings and noonan syndrome will be discussed.- - - - - - - - - - ranking = 1keywords = giant (Clic here for more details about this article) |
7/15. Giant aneurysms of the sinuses of Valsalva and aortic regurgitation in a patient with Noonan's syndrome.Noonan's syndrome is one of the commonest hereditary syndromes with cardiac involvement. We report a rare presentation of this syndrome, associated with giant aneurysms of the left and non-coronary sinuses of Valsalva, resulting in symptomatic aortic valve regurgitation. The patient's clinical investigations and operative management are presented. Histological examination of aortic tissues offers insight into the pathogenesis of these complications.- - - - - - - - - - ranking = 0.16666666666667keywords = giant (Clic here for more details about this article) |
8/15. Diffuse-type tenosynovial giant cell tumor in association with neurofibromatosis type 1-noonan syndrome: possibly more than a chance relationship.A case of diffuse-type tenosynovial giant cell tumor arising in the left upper extremity is reported in a 23-year-old man with neurofibromatosis type 1 (NF1)-noonan syndrome. The predominately mononuclear cellular proliferation with psammomatous calcifications had the immunohistochemical and ultrastructural features of a fibrohistiocytic neoplasm. This uncommon type of soft tissue neoplasm occurring in this unique clinical setting served to open an inquiry into the subject of non-neurogenic tumors in association with NF1 and noonan syndrome, both manifested in our patient. Nonossifying fibroma of bone as a presumptive fibrohistiocytic tumor is an uncommon but well-documented manifestation in NF1, whereas in Noonan-like syndrome, both giant cell granuloma and pigmented villonodular synovitis are recognized as associated lesions with histologic and immunophenotypic similarities with the diffuse-type tenosynovial giant cell tumor.- - - - - - - - - - ranking = 1.1666666666667keywords = giant (Clic here for more details about this article) |
9/15. Noonan-like/multiple giant cell lesion syndrome.A patient with the Noonan-like/multiple giant cell lesion syndrome is reported and the findings in 14 cases are reviewed. Impressive manifestations include short stature, low normal intelligence or developmental delay, ocular hypertelorism, prominent posteriorly angulated ears, giant cell lesions of bones, joints, and/or soft tissues, pectus excavatum, and pulmonic stenosis. It has been difficult to delineate the syndrome because problems in identifying the condition have resulted from incomplete or truncate ascertainment by various medical specialists.- - - - - - - - - - ranking = 1keywords = giant (Clic here for more details about this article) |
10/15. The noonan syndrome/cherubism association.noonan syndrome is characterized by short stature, unusual facies, congenital heart disease, chest deformity, mild mental retardation, and cryptorchidism in males. It may be sporadic or inherited as an autosomal dominant trait and occurs between 1 in 1000 and 1 in 2500 live births. cherubism is a giant cell lesion of the jaws thought to be transmitted as an autosomal dominant trait. It is usually recognized by age 7 years, follows a variable course, and is not known to be related to other genetic disorders. We herein report on four patients with noonan syndrome, all of whom had cherubism. Two other probable cases are cited in the literature for a total of six known cases.- - - - - - - - - - ranking = 0.16666666666667keywords = giant (Clic here for more details about this article) |
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