Noonan syndrome was first described as a specific condition in 1963 by Noonan and Ehmke. At this time, a series of patients with unusual facial features and multiple malformations, including congenital heart disease, were determined to represent a unique condition. Prior to this, these patients were thought to have a form of Turner syndrome, a condition with similar features.The fact that people with Noonan syndrome have a normal karyotype was an important distinguishing characteristic.
Last updated: 7/17/2014
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