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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)

Swyer-James syndrome associated with Noonan syndrome: report of a case.

A 28-year-old man with Noonan syndrome associated with unilateral hyperlucent lung is reported. He had the typical craniofacial appearance and short stature of Noonan syndrome; he had mild mental retardation, atrophic testis, mild funnel chest and kyphosis. cardiovascular abnormalities included asymmetric hypertrophic cardiomyopathy and a significantly different caliber of the left and right pulmonary arteries. The unilateral hyperlucent lung was shown to result from acquired nondestructive emphysema caused by nonvalvular obstruction of the bronchi (Swyer-James syndrome or Macleod's syndrome). To the authors' knowledge, this is the first reported case of Noonan syndrome associated with Swyer-James syndrome.[1]


  1. Swyer-James syndrome associated with Noonan syndrome: report of a case. Lin, Y.M., Huang, W.L., Hwang, J.J., Ko, Y.L., Lien, W.P. J. Formos. Med. Assoc. (1995) [Pubmed]
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