Noonan’s syndrome is thought to occur in as many as between one in every 1000 and one in every 2500 births. The syndrome has a number of features which vary both in individuals and with time, which can make diagnosis difficult. For example, the facial features which at birth are characteristic of Noonan’s syndrome, may alter greatly by the time adult life is reached. Also, a sign which is obvious in one individual with the syndrome may be absent in another. It is thought that there may be some adults who have Noonan’s syndrome, but who are undiagnosed due to lack of knowledge in the past, so the incidence of the condition may be greater than originally thought. Both sexes can be affected.
KeywordsGenetic Counselling Short Stature Facial Feature Ventricular Septal Defect Paediatric Cardiologist
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