thanatophoric

thanatophoric

1. but differentiating thanatophoric dysplasia from non-lethal skeletal disorders is very important. At the present time, however, prenatal genetic screening seems unpractical.

但与非致死性骨疾病的监别诊断是非常重要的，目前利用产前基因筛检此症似乎仍不实用。

2. thanatophoric dysplasia syndrome

促死性发育不良综合征(致死性侏儒征)

3. 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见的致死性新生儿侏儒症其特点为短小的四肢、小胸、巨头及脑部发育异常等。

4. Methods:Retrospective review of three cases of thanatophoric dysplasia.

方法复习1438例尸检中诊断为致死性侏儒的3例作回顾性研究。

5. Objective: To study the clinical,radiographic,molecular and pathologic characteristics of thanatophoric dysplasia.

目的研究致死性侏儒的临床、影像学、致病基因和病理学表现。

6. thanatophoric dwarf

致死性侏儒

7. Keywords Thanatophoric dysplasia;Prenatal diagnosis;Fibroblast growth factor receptor 3;Gene mutation;

致死性侏儒;产前诊断;成纤维细胞生长因子受体3;基因突变;

8. thanatophoric dwarfism

致死性侏儒症, 濒死性侏儒

9. Thanatophoric dwarfism syndrome

致死性侏儒综合征

10. thanatophoric dysplasia

致死性骨发育不全