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Noonan's Syndrome and Ebstein's Malformation of the Tricuspid Valve

Nathan L. Wright, MD; Robert L. Summitt, MD, MS; Lorin E. Ainger, MD, MSc
Am J Dis Child. 1968;116(4):367-372. doi:10.1001/archpedi.1968.02100020371004.
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IN THEIR review of noncardiac anomalies encountered in a large number of children with congenital heart disease, Noonan and Ehmke in 19631 noted a group of male and female children with pulmonic stenosis who also had stigmata suggestive of the Ullrich-Turner syndrome. In describing their syndrome, these authors included short stature, hypertelorism, mild mental retardation, congenital heart disease, ptosis, cryptorchidism, and various skeletal malformations. Summitt et al2,3 further defined the syndrome and suggested that the eponym "Noonan's syndrome" be employed to designate these patients apart from the Ullrich-Turner syndrome. In their report of seven boys with Noonan's syndrome, these latter authors emphasized that Noonan's syndrome differs in several important respects from the Ullrich-Turner syndrome. These differences included the following characteristics: (1) a milder and more variable pattern of shortness of stature; (2) frequent occurrence of pulmonary valvular or arterial stenosis; (3) a greater incidence of mental retardation; (4) functioning fetal gonads which

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