Noonan综合征
Noonan syndrome
- 层级
- 5 级
定义
Noonan综合征的特征是身材矮小、特殊面容和先天性心脏缺陷。NS的主要面部特征是眶距增宽症、外眼角下斜，上睑下垂和低位后旋耳伴耳廓螺旋增厚。最常见的心血管缺陷是肺动脉狭窄和肥厚性心肌病。其他相关特征包括颈蹼、胸部畸形、轻度智力缺陷、隐睾、婴儿喂养不良、出血倾向和淋巴管发育不良。该综合征作为常染色体显性遗传。
Noonan Syndrome is characterised by short stature, facial dysmorphism and congenital heart defects. The main facial features of NS are hypertelorism with down-slanting palpebral fissures, ptosis and low-set posteriorly rotated ears with a thickened helix. The cardiovascular defects most commonly associated with this condition are pulmonary stenosis and hypertrophic cardiomyopathy. Other associated features are webbed neck, chest deformity, mild intellectual deficit, cryptorchidism, poor feeding in infancy, bleeding tendency and lymphatic dysplasia. The syndrome is transmitted as an autosomal dominant trait.
索引词 可用于检索该条目的同义词与别名
- Noonan综合征
- 努南综合征
英文词条（1）
- Noonan syndrome
后组配轴 Postcoordination
该条目未定义后组配轴，直接使用上面的编码即可。后组配是在主干编码之后追加侧别、具体解剖部位、严重程度、病因等细节的可选组合方式，不是必填项。