Noonan Syndrome a genetic condition

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Case description

Noonan Syndrome (NS) is a genetically heterogenous autosomal dominant condition associated with short stature, variable intellectual capacity, neck webbing and ocular hypertelorism (abnormally increased distance between the orbits). There is also a strong association with congenital heart disease most often pulmonic stenosis and hypertrophic cardiomyopathy (in 20%). 

tags: Noonan Syndrome NS genetic disorder Neck webbing ocular hypertelorism students patophysiology


Maciej Dobosz
Editor

Maciej Dobosz

MD

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