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Chiari I malformation and Noonan’s syndrome: Shared manifestations of RASopathy

Journal: Journal of Clinical Images and Medical Case Reports (Vol.2, No. 5)

Publication Date:

Authors : ; ; ; ; ; ; ;

Page : 1-3

Keywords : Noonan syndrome; Chiari I malformation; RASopathy.;

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Abstract

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

Last modified: 2021-12-12 23:40:09