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...

BACKGROUND Noonan syndrome is an autosomal, dominantly inherited disease; it is physically characterized by short stature, short neck, webbed neck, abnormal auricles, high arched palate, and cardiovascular malformation. Its pathological condition is thought to be due to a gain-of-function mutation in the Ras-mitogen-activated protein kinase (MAPK) signal transduction pathway. Eyelid abnormaliti...

Noonan syndrome is a relatively common and heterogeneous genetic disorder, associated with congenital heart defect in about 50% of the cases. If the defect is not severe, life expectancy is normal. We report a case of Noonan syndrome in a preterm infant with hypertrophic cardiomyopathy and lethal outcome associated to acute respiratory distress syndrome caused by Adenovirus pneumonia. A novel m...

Introduction RASopathies (Noonan syndrome (NS) and Noonan-related syndromes) are neurodevelopmental syndromes resulting from germline mutations in genes that participate in the rat sarcoma/mitogen-activated protein kinases (RAS/ MAPK) pathway (PTPN11, SOS1, RAF, KRAS or NRAS and SHOC2). Some monogenic conditions are associated with the development of systemic lupus erythematosus (SLE), and a fe...

Gain-of-function mutations in SHP-2/PTPN11 cause Noonan syndrome, a human developmental disorder. Noonan syndrome is characterized by proportionate short stature, facial dysmorphia, increased risk of leukemia, and congenital heart defects in approximately 50% of cases. Congenital heart abnormalities are common in Noonan syndrome, but the signaling pathway(s) linking gain-of-function SHP-2 mutan...

Noonan Syndrome (NS) is an autosomal dominant disorder in which parents with syndrome have a 50percent chance of passing the mutation to their children, most commonly due PTPN11 gene. In clinical case, we identified male child who showed features such as short stature, congenital heart disease and peculiar facial appearance, strongly suspecting syndrome. The purpose this article report presenta...

Neurologic sequalae of Noonan syndrome have been postulated in the literature. A topic significance is role RASopathy shared pathophysiology Syndrome and Chiari I malformation. In this unique case report, we present a patient with concomitant 4th ventricular outflow obstruction. The highlights importance close clinical suspicion population. We utilize to delve into intricacies known encourage o...

Noonan syndrome is a multiple congenital anomaly syndrome, inherited in an autosomal dominant pattern. We studied 31 patients (18 males and 13 females) affected by this disorder regarding their clinical and genetic characteristics. The most frequent clinical findings were short stature (71%); craniofacial dysmorphisms, especially hypertelorism, ptosis, downslanting of the palpebral fissures; sh...