Colobomata associated with Noonan's syndrome. Issue 741 (July 1987)

• Record Type: Journal Article
• Authors: Kleanthous, L.; Cruz, D.; D'Graham, E.; Efthimiou, J.
• Is Part Of: Postgraduate medical journal. Volume 63:Issue 741(1987)
• Page Start: 559
• Page End: 561
• Publication Date: 1987-07
• Subjects: Medicine -- Periodicals; 610
• DOI: 10.1136/pgmj.63.741.559
• Languages: English
• ISSNs: 0032-5473

Abstract

Abstract : A patient with Noonan's syndrome and fundal colobomata in both eyes is described. To our knowledge, this is the first report of the association of colobomata with Noonan's syndrome. Although the patient had poor sight since early childhood and dyspnea on exertion as a teenager, the diagnosis of Noonan's syndrome was not made until early adulthood. We hope this report will encourage recognition of this syndrome and its implications at an earlier stage.