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1)  acromicria
先天肢端畸小
2)  Inborn micromelia
先天性断肢畸形
3)  congenital deformity of leg
下肢先天性畸形
4)  microtia
先天性小耳畸形
1.
Collection and hereditary research of pedigrees of microtia;
先天性小耳畸形家系收集和遗传学研究
2.
Relationship Between Mutation of Goosecoid Gene and Microtia;
Goosecoid基因突变与先天性小耳畸形的关系
3.
Mutational Analysis of EYA1 and SIX1 Gene in Chinese Patients with Microtia
先天性小耳畸形EYA1和SIX1基因检测分析
5)  congenital microtia
先天性小耳畸形
1.
Study on mutation of bone morphogenetic protein-5 mature peptide gene in patients with congenital microtia;
先天性小耳畸形患者骨形态发生蛋白-5成熟肽基因突变研究
2.
Objectives: To identify the risk factors associated with congenital microtia, and put forward its preventive measures.
研究目的:探讨导致先天性小耳畸形发生的各种危险因素,为小耳畸形的预防提供理论依据。
6)  Congenitial microtia
先天性小耳畸形
1.
Objective To investigate the pathology of the congenitial microtia and the relationship with biomechanic properties of the cartilage through examination the expression of type II collagen and elastin in the cartilage of the residual ear of microtia patients and the change of biomechanic properties of the cartilage.
目的:通过观察先天性小耳畸形患者残耳软骨细胞基质中Ⅱ型胶原蛋白和弹性蛋白在翻译和转录水平的表达和生物力学的改变,探讨先天性小耳畸形发生的组织学改变及其与生物力学之间的关系。
补充资料:鼻部先天性畸形


鼻部先天性畸形
congenital abnormalities of the nose

胚胎发育障碍所致的畸形,较少见。①外鼻畸形唇侧裂合并鼻翼及鼻底畸形较常见。鼻背中线皮样囊肿及瘘管,鼻根部脑膨出,鼻翼萎陷和鞍鼻偶见。鼻前孔闭锁或狭窄、鼻裂、双鼻畸形、单鼻畸形和管形鼻少见。这些畸形均需手术矫治。②鼻后孔闭锁偶见鼻后孔单侧或双侧闭锁,大多数是膜性闭锁,少数为骨性闭锁。此病常并发其他先天畸形。
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