Noonan's Syndrome
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چکیده
It is inherited in an autosomal dominant manner. The incidence of NS is estimated to be between 1 in 1,000 to 1 in 2,500 children. [2] NS is caused by mutations in the RAS/mitogen-activated protein kinase (MAPK) pathway which is essential for cell cycle differentiation, growth and senescence. A number of mutations have been identified with the four most common being PTPN11 (50% of cases), KRAS, SOS1 and RAF1 genes. [3] It is characterised by marked variable expressivity, making it difficult to identify mild cases. About 60% of cases are because of new spontaneous mutations. [4]
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Cerebral arteriovenous malformation in Noonan's syndrome.
Noonan's syndrome involves the association of multiple congenital abnormalities including neck webbing, pectus excavatum, facial anomalies with a variety of cardiac defects. In this paper the association of Noonan's syndrome with a large cerebral arteriovenous malformation is reported. Congenital cerebrovascular abnormalities are not a recognized feature of the syndrome. The paper also reviews ...
متن کاملColobomata associated with Noonan's syndrome.
A patient with Noonan's syndrome and fundal colobomata in both eyes is described. To our knowledge, this is the first report of the association of colobomata with Noonan's syndrome. Although the patient had poor sight since early childhood and dyspnea on exertion as a teenager, the diagnosis of Noonan's syndrome was not made until early adulthood. We hope this report will encourage recognition ...
متن کاملBehavioural aspects and psychiatric findings in Noonan's syndrome.
This study describes the behavioural phenotype and psychiatric symptoms of 21 children with Noonan's syndrome attending a paediatric genetics clinic. Data from the behavioural phenotypes questionnaire are presented that suggest that children with Noonan's syndrome tend to be clumsy, stubborn, irritable, have communication difficulties, and are 'faddy eaters'. Nearly 50% of the patients with Noo...
متن کاملPeripheral spondyloarthritis in a patient with Noonan's syndrome.
Noonan's syndrome is an autosomal dominant genetic disorder with high phenotypic variability, characterized mainly by facial dysmorphism, congenital heart disease and short stature. We describe the case of a male patient diagnosed with Noonan's syndrome and peripheral spondyloarthritis, a previously undescribed association in the literature.
متن کاملA case of Noonan's syndrome with primary pulmonary hypertension.
A case of Noonan's syndrome with primary pulmonary hypertension is reported. The patient has multiple anomalies (small mandible, high arched palate, low set ears, hypertelorism, and webbed neck). He has normal karyotype. Cardiac examinations show pulmonary hypertension, right ventricular hypertrophy, high RPEP /RVET and no other shunt diseases. We consider that this is the first reported case o...
متن کاملNoonan's and DiGeorge syndromes with monosomy 22q11.
A boy with the dysmorphic features of Noonan's syndrome and pulmonary valve stenosis who had evidence of hypoparathyroidism and abnormal T lymphocyte numbers in the neonatal period is reported. He had a normal karyotype but molecular analysis revealed a submicroscopic deletion within chromosome 22q11, the region deleted in DiGeorge syndrome. Thus this child has both Noonan's syndrome and DiGeor...
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