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- Cleidocranial dysostosis or Cleidocranial dysplasia is a hereditary congenital abnormality of humans due to haploinsufficiency caused by mutations in the CBFA1 gene. 什么是'锁骨颅骨发育不全-罕见的遗传性疾病导致矮身材'?
- This article reports a 12-year-old boy suffered from cleidocranial dysostosis, the interim treatment progress, and considerations in treatment planning. 本篇报告将探讨锁骨颅骨成骨不全症之牙科临床症状表现,及治疗计画之考量。
- hereditary cleidocranial dysostosis 遗传性锁骨颅骨发育不全
- cleidocranial dysostosis syndrome 锁颅骨发育不全综合征
- cleidocranial dysostosis 锁颅发育不全
- Objective: To investigate the X-ray and CT manifestations of familial cleidocranial dysplasia. 摘要目的:探讨家族性锁骨颅骨发育不全的X线及CT表现特征。
- Methods:Patients with cleidocranial dysplasia were examined,recorded,made photos and analyzed with x-ray films. 方法:对颅骨锁骨发育不全综合征患者进行体检,建立病历,摄片,分析牙、颌面及影像特点。
- Objective:To analyze genetically the characteristics of cleidocranial dysplasia. 目的:分析来自不同家族的骨锁骨发育不全综合征的发病特点。
- WANG Ying, WU Hua, ZHANG Xiao-xia, et al.Gene mutation detection in a cleidocranial dysplasia family[J].Chin J Stomatol, 2005, 40(6):459-462. [4] 王莹; 吴华; 张晓霞; 等.;家族性锁骨颅骨发育不全的基因突变 检测[J]
- Objective: To investigate the echographic features and the value of fetal dysostosis by ultrasound. 目的探讨超声检查胎儿成骨发育不全的声像图特点及其诊断价值。
- Conclusion:The analysis of clinical characteristics and x-ray film help the diagnosis and treatment of cleidocranial dysplasia. 结论:分析颅骨锁骨发育不全综合征的临床及影像特点有助于临床诊断及制定治疗方案。
- Nager syndrome (or acrofacial dysostosis) is an extremely rare congenital defect that has only had around 90 documented cases to date (02/06/07). 什么是'管理者综合征-罕见的先天性异常多系统综合征的面部特征'?
- Methods: The X-ray and CT findings and clinical symptoms in 6 cases (2 families) with cleidocranial dysplasia were analysed, and discussed on genetic basis. 方法:分析6例(2个家庭)锁骨颅骨发育不全的临床、X线及CT表现,并从遗传学角度进行探讨。
- Conclusion: Conventional ultrasound plays an important role in checking fetal dysostosis and is the first method in diagnosing the feta... 结论常规超声检查对胎儿成骨发育不全的筛检有着重要意义,为产前诊断胎儿骨骼发育异常的首选方法。
- Methods:The X-ray and CT findings and clinical sym ptoms in 6 cases (2 families) with cleidocranial dysplasia were analysed, and d iscussed on genetic basis. 方法分析6例(2个家庭)锁骨颅骨发育不全的临床、X线及CT表现,并从遗传学角度进行探讨。
- Treacher Collins syndrome (also known as Franceschetti-Zwahlen-Klein syndrome or mandibulofacial dysostosis) is a rare genetic disorder characterized by craniofacial deformities. 什麽是'特雷彻-柯林斯综合徵-遗传疾病造成面部和头颅畸形'?
- LIU Jun, LIU Jin, CHEN Wei, et al.The genetic bases, clinic and X-ray investigation of familial cleidocranial dysplasia[J].Chin J Medical Imaging Technology, 1999, 15(6):409-411. [1] 刘军; 刘进; 陈炜; 等.;家族性锁骨颅骨发育不全的遗传学基础 和临床X线研究[J]
- Nager acrofacial dysostosis syndrome 纳赫尔综合征, 纳赫尔面骨发育不全综合征
- corneal opacity-cranioskeletal dysostosis syndrome 角膜混浊-颅骨发育不全综合征, 黑-哈二氏综合征
- hereditary craniofacial dysostosis 克鲁宗(氏)病, 遗传性颅骨面骨发育不全