Fukushima Y
Department of Hygiene and Medical Genetics, Shinshu University School of Medicine, Matsumoto, Japan.
Acta Paediatr Jpn. 1996 Feb;38(1):102-4. doi: 10.1111/j.1442-200x.1996.tb03447.x.
The diagnosis of Noonan syndrome still rests on its clinical features. There are several syndromes to consider in the diagnosis of Noonan syndrome. These include cardio-facial-cutaneous syndrome, LEOPARD syndrome, neurofibromatosis-Noonan syndrome and Costello syndrome. The facial appearance and part of the clinical features of these syndromes are very similar to Noonan syndrome. Molecular research likely will elucidate whether these syndromes are variations of Noonan syndrome or etiologically different disorders.
努南综合征的诊断仍依赖于其临床特征。在努南综合征的诊断中需要考虑几种综合征。这些包括心脏-面部-皮肤综合征、豹皮综合征、神经纤维瘤病-努南综合征和科斯特洛综合征。这些综合征的面部外观和部分临床特征与努南综合征非常相似。分子研究可能会阐明这些综合征是努南综合征的变异型还是病因不同的疾病。
