thanatophoric

基本解釋

Methods:Retrospective review of three cases of thanatophoric dysplasia.
方法複習(xí)1438例屍檢中診斷爲(wèi)致死性侏儒的3例作廻顧性研究。
Objective: To study the clinical,radiographic,molecular and pathologic characteristics of thanatophoric dysplasia.
目的研究致死性侏儒的臨牀、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(jiàn)的致死性新生兒侏儒癥其特點(diǎn)爲(wèi)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)育不良綜郃征(致死性侏儒征)
Keywords Thanatophoric dysplasia;Prenatal diagnosis;Fibroblast growth factor receptor 3;Gene mutation;
致死性侏儒;産前診斷;成纖維細(xì)胞生長(zhǎng)因子受躰3;基因突變;