Noonan syndrome historical perspective

Jacqueline Noonan was the first to describe the syndrome we now know as Noonan syndrome in 1963 when she noticed that children with a rare type of heart defect, valvular pulmonary stenosis, often had a characteristic physical appearance with short stature, webbed neck, wide spaced eyes, and low-set ears.

Jacqueline Noonan was practicing as a pediatric cardiologist at the University of Iowa when she noticed that children with a rare type of heart defect, valvular pulmonary stenosis, often had a characteristic physical appearance with short stature, webbed neck, wide spaced eyes, and low-set ears. Both boys and girls were affected. Even though these characteristics were sometimes seen running in families, chromosomes appeared grossly normal. She studied 833 patients at the congenital heart disease clinic, looking for other congenital abnormalities, and in 1963 presented a paper: “Associated non-cardiac malformations in children with congenital heart disease”. This described 9 children who in addition to congenital heart disease had characteristic faces, chest deformities and short stature. Both males and females were found to be similarly affected, and the chromosomes were apparently normal. ^[1]

Dr John Opitz, a former student of Dr Noonan, first began to call the condition “Noonan Syndrome” when he saw children who looked like those whom Dr Noonan had described. Dr Noonan later produced a paper entitled “Hypertelorism with Turner Phenotype”, and in 1971 at the Symposium of Cardiovascular defects, the name ‘Noonan Syndrome’ became officially recognized. ^[2]

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