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Pulmonary Stenosis in Patients With the Turner Phenotype in the Male

John M. Celermajer, MB, BS, MRACP; J. Denby Bowdler, MB, BS, DDR; Douglas H. Cohen, MB, MS, FRACS
Am J Dis Child. 1968;116(4):351-358. doi:10.1001/archpedi.1968.02100020355002.
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THE clinical picture of Turner's syndrome is well known. Males with some of the somatic abnormalities present in Turner's syndrome have been variously termed "Turners' syndrome in the male,"1 male Ullrich syndrome,1 and Turner phenotype in the male2; they probably constitute a heterogenous group. Cardiovascular abnormalities have been noted frequently in Turner's syndrome, coarctation of the aorta being the most common.3,4 Lemli and Smith3 and Rainer-Pope et al4 found pulmonary stenosis to be the second most common lesion but some of these cases probably did not have the XO genotype. Little has been written about the cardiovascular abnormalities in boys with the Turner phenotype.

At the congenital Heart Clinic of the Royal Alexandra Hospital for Children over a period of eight years, we have noted features suggestive of the Turner phenotype in eight male patients with pulmonary stenosis of varying severity; they are described in this paper. To qualify

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