Kleanthous L, Cruz D, D'Graham E, Efthimiou J
University College Hospital, London, UK.
Postgrad Med J. 1987 Jul;63(741):559-61. doi: 10.1136/pgmj.63.741.559.
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.
本文描述了一名患有努南综合征且双眼存在眼底缺损的患者。据我们所知，这是关于眼底缺损与努南综合征关联的首例报告。尽管该患者自幼视力不佳，青少年时期运动时出现呼吸困难，但直到成年早期才确诊为努南综合征。我们希望本报告能促使人们更早地认识到这种综合征及其影响。
