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Turner phenotype with normal sex chromosomal pattern and congenital heart disease (Noonan's Syndrome)


R.L. van der Horst

Abstract

Five patients with cardiovascular anomalies and Noonan's syndrome are described. In each instance, pulmonary stenosis with or without an atrial septal defect was present. Noonan's syndrome is similar to Turner's syndrome, but in the former both males and females are affected and the chromosomal pattern is normal. Webbing of the neck, shortness of stature, hypertelorism and other features are common to both syndromes.

S. Afr. Med. J., 48, 219 (1974).

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eISSN: 2078-5135
print ISSN: 0256-9574