Results 11 to 20 of about 9,297 (176)
Journal of Medical Genetics, 1987 AbstractNoonan syndrome is a common autosomal dominant condition caused by multiple genes in the RasMAPK pathway. The adult phenotype can be extremely subtle, and many adults are diagnosed only after the birth of a more obviously affected child. Whether diagnosis is made in childhood or adulthood, initial and ongoing evaluation of many systems can have
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Noonan syndrome gain-of-function mutations in NRAS cause zebrafish gastrulation defects
Disease Models & Mechanisms, 2011 SUMMARY Noonan syndrome is a relatively common developmental disorder that is characterized by reduced growth, wide-set eyes and congenital heart defects. Noonan syndrome is associated with dysregulation of the Ras–mitogen-activated-protein-kinase (MAPK)
Vincent Runtuwene +9 more
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First Report of New Oral Findings in a Case with Noonan Syndrome [PDF]
Iranian Journal of Public Health, 2008 Noonan syndrome is an autosomal dominant disorder that is typically evident at birth. In many affected individuals, this syndrome is associated with cardiac defects and a distinctive facial appearance. The high frequency of cardiac disorder, ophthalmic,
M Sahebjamee , NG Ameri , DD Farhud
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Noonan syndrome-causing genes: Molecular update and an assessment of the mutation rate
International Journal of Pediatrics & Adolescent Medicine, 2016 Noonan syndrome is a common autosomal dominant disorder characterized by short stature, congenital heart disease and facial dysmorphia with an incidence of 1/1000 to 2500 live births.
Ihssane El Bouchikhi +7 more
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Noonan Syndrome in 12 -Year-Old Male: Case Report and Orthodontic Management of the Occlusion
Balkan Journal of Dental Medicine, 2020 Background/Aim: Noonan syndrome (NS) is an autosomal dominant disorder, caused by mutations on genes located on the long arm of chromosome 12. The condition has no sex or race predilection and its incidence is 1 per 1,000 – 2,500 live births. Individuals
Chatzistavrou Evangelia +1 more
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Noonan Syndrome with cleft palate: A rare case report
Journal of Indian Academy of Oral Medicine and Radiology, 2016 Noonan syndrome is a clinically and genetically heterogeneous condition characterized by distinctive facial features, short stature, chest deformity, congenital heart diseases and other comorbidities.
Munish Kumar +3 more
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Monaldi Archives for Chest Disease, 2020 Noonan syndrome (NS) is a genetic multisystem disorder characterised by distinctive facial features, developmental delay, learning difficulties, short stature, congenital heart disease, renal anomalies, bleeding difficulties and lymphatic malformations ...
Georgia-Emmanuela Dendrinou +3 more
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Noonan syndrome – a new survey
Archives of Medical Science, 2016 Noonan syndrome (NS) is an autosomal dominant disorder with vast heterogeneity in clinical and genetic features. Various symptoms have been reported for this abnormality such as short stature, unusual facial characteristics, congenital heart ...
Alireza Tafazoli +3 more
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Multifocal Pigmented Villonodular Synovitis in the Noonan Syndrome
Case Reports in Orthopedics, 2018 Noonan-like/multiple giant cell lesion (NS/MGCL) is a rare condition overlapping with Noonan syndrome. Once thought to be a specific and separate entity, it is now suggested to be a variant of the Noonan syndrome spectrum. We report the case of an 8-year-
Othmane Miri +5 more
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Revista CEFAC, 2020 Noonan syndrome is an autosomal dominant genetic disease with different manifestations, including Speech, Language and Hearing Sciences ones. The authors describe the orofacial and myofunctional manifestations of an adolescent diagnosed with Noonan ...
Geciane Xavier Torres +5 more
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