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  • Title: [Turner's phenotype and diagnosis of Noonan's syndrome].
    Author: Latini G, Berardi R.
    Journal: Pediatr Med Chir; 1982; 4(5):535-8. PubMed ID: 6927352.
    Abstract:
    The Authors describe two cases of Noonan's Syndrome (Turner phenotype and normal Karyotype), underlining the necessity of a differential diagnosis with the "True" Syndrome of Turner, for the presence, in the latter, of a non development of the height, weight and phenotype, which moves away from the standard much. While on the contrary in the Noonan's syndrome both the sexual development and the evolution of the height and weight may be normal and in the latter syndrome, so, the attention of the Doctors has to be turned prevalently to the congenital cardiopathy (almost always stenosis of the pulmonary artery), which can also impair the life of the patient.
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