نتایج جستجو برای: noonan syndrome
تعداد نتایج: 622056 فیلتر نتایج به سال:
A woman with Noonan syndrome had clinical and haemodynamic features of restrictive cardiomyopathy. There was no ventricular hypertrophy on echocardiography but myocardial biopsies showed myocyte hypertrophy without pathological disarray. This case illustrates the overlap of the cardiac phenotypes of Noonan syndrome, restrictive cardiomyopathy, and hypertrophic cardiomyopathy.
Neurofibromatosis-Noonan syndrome is a rare RASopathy syndrome. It occurs due to the mutation in NF1 gene and patients present with phenotypic features of both Neurofibromatosis Noonan Here case an early adolescent girl described who presented chief complaint primary amenorrhoea on evaluation was diagnosed be patient The index short-statured short broad neck. Physical examination revealed point...
OBJECTIVE Noonan syndrome is a clinically homogeneous but genetically heterogeneous condition. Type 1 Noonan syndrome is defined by the presence of a mutation in the PTPN11 gene, which is found in approximately 40% of the cases. Phenotype descriptions and cardiac defects from cohorts with Noonan syndrome were delineated in the "pregenomic era." We report the heart defects and links to gene dysf...
BACKGROUND Short stature represents one of the main features of children with Noonan syndrome. The reason for impaired growth remains largely unknown. OBJECTIVE To assess GH and IGF1 secretion in children with Noonan syndrome. PATIENTS 12 prepubertal children with Noonan syndrome due to mutations in the PTPN11 gene [7 males, 6 females; median age, years: 8.6 (range 5.1-13.4)] were studied; ...
BACKGROUND Noonan syndrome is an autosomal dominant, multisystemic disorder caused by dysregulation of the RAS/mitogen activated protein kinase (MAPK) pathway. Heterozygous, pathogenic variants in 11 known genes account for approximately 80% of cases. The identification of novel genes associated with Noonan syndrome has become increasingly challenging, since they might be responsible for very s...
We report a case of Noonan syndrome with loose anagen hair (NS/LAH), a rare variant of Noonan syndrome, with associated trichorrhexis nodosa and trichoptilosis. The SHOC2 mutation may be responsible for these additional hair shaft defects, revealing the importance of microscopic examination of hairs in these patients.
M ultiple lentigines LEOPARD syndrome (MIM 151100) is an autosomal dominant multiple congenital anomaly syndrome, with high penetrance and markedly variable expression. The acronym LEOPARD was coined by Gorlin et al. in 1971 as a mnemonic of the major features of this disorder: multiple lentigines, ECG conduction abnormalities, ocular hypertelorism, pulmonic stenosis, abnormal genitalia, retard...
Central giant cell granuloma is a benign, aggressive neoplasm composed of multinucleated giant cells that almost exclusively occurs in the jaws though extra-gnathic incidence is rare.Multifocal CGCGs of the jaws are very rare and suggestive of systemic diseases such as hyperparathyroidism,an inherited syndrome such as Noonan-like multiple giant cell lesion syndrome or other disorders.Very few c...
Noonan syndrome is one of the most common causes of human congenital heart disease and is frequently associated with missense mutations in the protein phosphatase SHP-2. Interestingly, patients with acute myelogenous leukemia (AML), acute lymphoblastic leukemia (ALL), juvenile myelomonocytic leukemia (JMML) and LEOPARD syndrome frequently carry a second, somatically introduced subset of missens...
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