thanatophoric

常見例句

Methods:Retrospective review of three cases of thanatophoric dysplasia.
方法復(fù)習(xí)1438例尸檢中診斷為致死性侏儒的3例作回顧性研究。
Objective: To study the clinical,radiographic,molecular and pathologic characteristics of thanatophoric dysplasia.
目的研究致死性侏儒的臨床、影像學(xué)、致病基因和病理學(xué)表現(xiàn)。
Thanatophoric dysplasia (TD) is the most common form of lethal neonatal dwarfism with micromelic shortening of the limbs, macrocephaly, platyspondyly, and reduced thoracic cavity.
摘要致死性畸胎是最常見的致死性新生兒侏儒癥其特點(diǎn)為短小的四肢、小胸、巨頭及腦部發(fā)育異常等。
thanatophoric dysplasia syndrome
促死性發(fā)育不良綜合征(致死性侏儒征)
Keywords Thanatophoric dysplasia;Prenatal diagnosis;Fibroblast growth factor receptor 3;Gene mutation;
致死性侏儒;產(chǎn)前診斷;成纖維細(xì)胞生長因子受體3;基因突變;
but differentiating thanatophoric dysplasia from non-lethal skeletal disorders is very important. At the present time, however, prenatal genetic screening seems unpractical.
但與非致死性骨疾病的監(jiān)別診斷是非常重要的，目前利用產(chǎn)前基因篩檢此癥似乎仍不實(shí)用。