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- 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。
- 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。
- 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。
- thanatophoric dysplasia syndrome 促死性发育不良综合征(致死性侏儒征)
- Keywords Thanatophoric dysplasia;Prenatal diagnosis;Fibroblast growth factor receptor 3;Gene mutation; 致死性侏儒;产前诊断;成纤维细胞生长因子受体3;基因突变;
- 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。
- thanatophoric dysplasia 致死性骨发育不全
- Familialbilateral cystic dysplasia of kidneys. 为肾发育异常的弥漫性囊肿型。
- Accepted indices of hip dysplasia were measured. 这些是公认的髋发育不良的测量指数。
- Final diagnosis was diastrophic dysplasia . 最终诊断是骨畸形性发育不良。
- Diagnosis: Fibrous dysplasia of the skull. 诊断:颅骨纤维异常增殖。
- Among animals with hip dysplasia, the onset of arthritis will vary. 犬髋关节发育不全是一种发展型的骨科疾病。
- Cyclic follicular dysplasia is also known as seasonal alopecia. 循环性毛囊发育不良又称季节性脱毛.
- Ectodermal dysplasia(ED)is an X-linked inherited disease. 外胚层发育不全为一遗传疾病,最常见的是性联缺汗性类型。
- CIN and cervical dysplasia may occur among childbearing aged women. CIN及宫颈癌可发生于任何糜烂程度甚至光滑的宫颈;
- Familial Calvarial Doughnut Lesions-A Variant of Fibrous Dysplasia? 家族性颅骨圈饼状病灶-纤维性分化不良变异型?
- Diagnosis:anhidrotic ectodermal dysplasia(incompletely type). 诊断:无汗性外胚叶发育不良(不完全型)。
- And if left untreated, dysplasia will become cerical cancer. 如果不治疗不典型增生将发展为子宫颈癌。
- HHT is an autosomal dominant disordercharacterized by vascular dysplasia. HHT是常染色体显性遗传性血管发育异常的一种疾病。
- The drupe fruit tree can't bear fruit in the dysplasia of the plumule. 核果类果树在胚芽发育异常时不能坐果。
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