Abstract
Since Noonan's syndrome was described (J. Ped. 63:468, 1963), more than 200 cases have been reported. Although pulmonic stenosis is generally thought of as the classical cardiac finding, many such patients have cardiac anomalies other than pulmonic stenosis. Of the 9 cases seen by us, 5 are males and 4 are females. Hypertelorism and low-set ears were present in all, as was short stature with one exception. Three cases were mentally retarded. All males presented cryptorchidism. Pulmonic stenosis was found or suspected in 5 patients; transposition of great vessels in one. In a mother and daughter with the Noonan phenotype the mother had an atrial septal defect, but cardiological evaluation was refused in the daughter. A boy showed pseudoco-arctation of the aorta, bicuspid aortic valve and cardiomyopathy Another boy showed unusual bleeding at surgery, neonatal macro-somia and adolescent gynecomastia. An autosomal dominant mode of inheritance has been postulated. However, several examples of male to male transmission as well as phenotypic overlap with 45,X Turner's syndrome suggest the possibility of inheritance via the homologous regions of the X and Y chromosomes (partial sex-linkage).
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Morillo, E., Gardner, L. 545 HETEROGENEITY OF CARDIAC FINDINGS IN NOONAN'S SYN-343 DROME: NINE CASES WITH A FAMILIAL EXAMPLE. Pediatr Res 12 (Suppl 4), 454 (1978). https://doi.org/10.1203/00006450-197804001-00550
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DOI: https://doi.org/10.1203/00006450-197804001-00550