Noda H, Mori F, Miyamoto M, Tsuboi H, Esato K, Kondo O
First Department of Surgery, Yamaguchi University School of Medicine, Ube, Japan.
Nihon Kyobu Geka Gakkai Zasshi. 1990 Feb;38(2):280-3.
A 10 year old girl with diagnosis of Noonan syndrome was admitted to our hospital because of easy fatiguability and cardiac murmur. She had a peculiar face with hypertelorism, saddle nose, webbed neck and kyphosis. Chromosomal analysis demonstrated normal 46 XX pattern. Associated cardiac anomalies in this case were atrial septal defect, ventricular septal defect and pulmonary stenosis caused by pulmonary valvular dysplasia. The cardiac anomalies were corrected successfully and postoperative clinical course was uneventful.
一名诊断为努南综合征的10岁女孩因易疲劳和心脏杂音入院。她面容特殊,有眼距增宽、鞍鼻、蹼颈和脊柱后凸。染色体分析显示为正常的46 XX核型。该病例相关的心脏异常为房间隔缺损、室间隔缺损和由肺动脉瓣发育异常引起的肺动脉狭窄。心脏异常已成功矫正,术后临床过程平稳。