Other Names for this Disease
- Female Pseudo-Turner Syndrome
- Male Turner Syndrome
- Noonan-Ehmke syndrome
- Pseudo-Ullrich-Turner syndrome
- Ullrich-Noonan syndrome
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Your QuestionI have Noonan syndrome. I would like to know who discovered this condition and in what year.
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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
- Noonan Syndrome. Medscape Reference. May 23, 2013; http://emedicine.medscape.com/article/947504-overview. Accessed 7/17/2014.