Noonan syndrome historical perspective: Difference between revisions
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==Historical Perspective== | ==Historical Perspective== | ||
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, [[pulmonary stenosis|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, [[karyotype|chromosomes]] appeared grossly normal. She studied 833 patients at the congenital heart disease clinic, looking for other congenital abnormalities, and in | 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, [[pulmonary stenosis|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, [[karyotype|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. <ref name="pmid4386970">{{cite journal| author=Noonan JA| title=Associated non-cardiac malformations in children with congenital heart disease | journal=Midwest Soc Pediatr Res | year= 1963 | volume= 63 | issue= | pages= 468-7 | pmid= | doi= | pmc= </ref> | ||
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. | 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. <ref name="pmid4386970">{{cite journal| author=Noonan JA| title=Hypertelorism with Turner phenotype. A new syndrome with associated congenital heart disease. | journal=Am J Dis Child | year= 1968 | volume= 116 | issue= 4 | pages= 373-80 | pmid=4386970 | doi= | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=4386970 }} </ref> | ||
==References== | ==References== | ||
Revision as of 21:43, 7 November 2013
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
Overview
Historical Perspective
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. [1]
References
Template:Phakomatoses and other congenital malformations not elsewhere classified