AT THE meeting of the Mid-Western Society for Pediatric Research in 1962, I reported on nine patients with remarkably similar facies with a previously unrecognized syndrome of valvular pulmonary stenosis and multiple extra cardiac anomalies.1 Review of the literature at that time showed that several males resembling these patients had been reported under several different headings, most commonly under the designation of, "the male Turner syndrome."2-5 There were no definite reports of similarly affected female patients. In that report I spoke in terms of a "new syndrome" in order to stress that this condition could affect not only males but also females, and that it was also clinically and etiologically different from the true Turner6 syndrome. Since that time, a further eight patients, five males and three females, with valvular pulmonary stenosis and similar associated lesions have been studied. An additional two patients, one of each sex,
Noonan JA. Hypertelorism With Turner PhenotypeA New Syndrome With Associated Congenital Heart Disease. Am J Dis Child. 1968;116(4):373–380. doi:10.1001/archpedi.1968.02100020377005
Customize your JAMA Network experience by selecting one or more topics from the list below.