Noonan Syndrome: Clinical Features, Diagnosis, and Management Guidelines
@article{Romano2010NoonanSC, title={Noonan Syndrome: Clinical Features, Diagnosis, and Management Guidelines}, author={Alicia A. Romano and Judith Allanson and Jovanna Dahlgren and Bruce D. Gelb and Bryan Hall and Mary Ella Pierpont and Amy E. Roberts and Wanda Robinson and Clifford M Takemoto and Jacqueline A. Noonan}, journal={Pediatrics}, year={2010}, volume={126}, pages={746 - 759} }
Noonan syndrome (NS) is a common, clinically and genetically heterogeneous condition characterized by distinctive facial features, short stature, chest deformity, congenital heart disease, and other comorbidities. Gene mutations identified in individuals with the NS phenotype are involved in the Ras/MAPK (mitogen-activated protein kinase) signal transduction pathway and currently explain ∼61% of NS cases. Thus, NS frequently remains a clinical diagnosis. Because of the variability in…
472 Citations
[Noonan syndrome: genetic and clinical update and treatment options].
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- 2017
Noonan syndrome diagnosis is primarily based on clinical features, but molecular testing should be performed to confirm it in patients, and next-generation sequencing is the best choice for diagnostic testing.
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A late diagnosis of NS is described in a 14 year old male who presented with a normal height, but a predicted adult height discordant with his genetic potential, which highlights the obstacles that resulted in a delay in diagnosis and provides additional considerations for providers who have a clinical suspicion for NS.
Noonan syndrome.
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Most patients with Noonan syndrome are intellectually normal as adults, but some may require multidisciplinary evaluation and regular follow-up care.
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- 2022
It is proposed that increasing awareness of NS among non-specialist HCPs and other professionals could help direct a parent/carer to seek specialist advice and increase the number of NS diagnoses, with the potential to optimise lifelong patient outcomes.
An atypical case of Noonan syndrome with KRAS mutation diagnosed by targeted exome sequencing
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With TES analysis, a pathogenic variant of c.458A > T in KRAS was detected in this patient with atypical NS phenotype and provided appropriate clinical management and genetic counseling.
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- 2014
Increased awareness by paediatricians will lead to earlier diagnosis, and provide patients and their families with accurate genetic counselling, including options when planning pregnancy, and has become increasingly important in guiding management.
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Clinical features and current treatment guidelines of Noonan Syndrome are reviewed in order to allow general paediatricians to better care children and adolescents with Noonan syndrome and to ensure a proper multidisciplinary approach.
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