Hypertelorism With Turner Phenotype

Abstract

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.¹Review 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."^2-5There 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 Turner⁶syndrome. 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,