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Symptoms of Noonan syndrome症状努南综合征

There are many different symptoms associated with Noonan syndrome, and few people with the disorder display all of them.有很多不同的症状与努南综合征,少数人与无序显示所有他们。 Symptoms vary between individuals and in severity.症状不同,个人之间的和严重程度。

Heart defects are present in approximately 80% of children with Noonan syndrome.心脏缺损是目前在大约80 %的儿童与努南综合征。 The most common include:最常见的包括:

  • narrowing of the valve that takes blood from the heart to the lungs (Pulmonary valve stenosis),缩小阀需血液从心脏到肺脏(肺动脉瓣狭窄) ,
  • thickening of the heart muscles (Hypertrophic cardiomyopathy),增厚,心脏肌肉(肥厚型心肌病) ,
  • a hole between the upper two chambers of the heart (Atrial septal defect), and一个洞之间的上两个商会的心脏(心房中隔缺损) ,以及
  • a hole between the lower two chambers of the heart (Ventricular septal defect)一个洞之间的较低的两个商会心(室间隔缺损)

Facial and physical features of Noonan syndrome differ between individuals and can be quite mild.面部和身体特征努南辨证之间的个人和可以相当温和。 They may include the following:他们可能包括以下内容:

  • drooping eyelids (Ptosis),眼睑下垂(上睑下垂) ,
  • large downward slanting eyes,大向下斜的眼睛,
  • widely spaced eyes (Hyperterlorism),广泛间隔眼( hyperterlorism ) ,
  • flat nasal bridge,单位鼻梁,
  • short neck with extra skin folds, sometimes described as ‘webbing’ - the folds may appear on both sides of the back of the neck, giving a round shouldered look,短期颈部与额外的皮肤褶皱,有时被称为â € 〜 webbingâ € ™ -褶皱可能出现在双方的背后,颈部,使轮肩负的期待,
  • low hairline on back of neck,低极细就回到颈部,
  • low set ears with frontal lobe rotations, and低设置的耳朵与额叶的轮调,和
  • short stature in correct proportion.身材矮小,在正确的比例。