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Noonan Syndrome and Related Disorders 

Noonan Syndrome and Related Disorders
Author(s):

Robin D. Clark

and Cynthia J. Curry

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date: 27 May 2019

This chapter reviews the incidence and etiology of Noonan syndrome (NS) and related disorders in the RAS–MAPK pathway. The prenatal presentations of NS, CFC syndrome and Costello syndrome are reviewed with the emphasis on possibly distinquishing these conditions in-utero. Clinically unique and overlapping features at birth are emphasized. Other forms of NS are listed including NS with lentigines and NS with loose anagen hair. Neurofibromatosis 1 is also discussed although this disorder is rarely diagnosed in newborns. Complications seen in infancy are reviewed. Recommendations for RAS pathway gene panel testing, echocardiography, developmental follow up and imaging are enumerated.

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