Like most achondroplasia dwarfs, I have two average-height parents, as well as an average-height brother. 像大多数患有软骨发育不全症的侏儒一样,我的父母身高正常,我的兄弟也很正常。
Surgical management of pelvic organ prolapse in a woman with achondroplasia. 软骨发育不全女性盆腔器官脱垂的手术治疗。
I'll never let having achondroplasia stop me from doing anything, he told Barcroft Media. 我决不会让软骨发育不全症阻止我做任何事情,他告诉巴克罗夫特媒体。
I am an achondroplasia dwarf, which is a person having very short limbs. 我是一名软骨发育不全的矮人,腿极短。
I stand three feet, nine inches tall. I am an achondroplasia dwarf, which is a person having very short limbs. 我只有三英尺九英寸高,是一个患软骨发育不全症的侏儒,四肢短小。
The teenager, who is the world's smallest girl according to the Indian Book of Records, has a form of dwarfism called achondroplasia. 这个体形矮小的女孩子患有软骨发育不全症,根据印度方面的纪录,软骨发育不全是世界上最小的女孩。
Their newborn daughter died last year from a devastating dwarfism-related disease called homozygous achondroplasia. 他们的新生女儿去年死于一种破坏性很强的侏儒相关性疾病,叫做纯合软骨发育不良。
In this study, researchers found a connection between a mutation in sperm DNA and a form of dwarfism known as achondroplasia. 在这个研究中,研究者发现精子DNA变异和侏儒症(软骨发育不全)存在联系。
"hypochondroplAsia, similar except for normal head size;" of or relating to achondroplasia. 软骨发育不良,症状与软骨发育不全相似,但头部大小正常;
Diagnosing achondroplasia by single cell nested-PCR 单细胞巢式PCR诊断软骨发育不全
Detection of fibroblast growth factor receptor 3 gene mutation at nucleotide 1138 site in congenital achondroplasia patients 先天性软骨发育不全成纤维细胞生长因子受体3基因1138位核苷酸点突变的检测
Objective: To establish a method for differential diagnosis of achondroplasia in gene level. 目的建立一种基因水平上鉴别诊断先天性软骨发育不全的方法。
Objevtive: It is to evaluate the epidemiological characteristics of achondroplasia in China. 目的:了解我国围产儿软骨发育不全的流行病学特征。
Study of perinatals 'characteristics of achondroplasia in China 中国围产儿软骨发育不全特征分析
Differential diagnosis of achondroplasia by FGFR_3 gene analysis 检测FGFR3基因鉴别诊断先天性软骨发育不全
Mutation analysis of fibroblast growth factor receptor 3 gene in an achondroplasia family 一个软骨发育不全家系成纤维细胞生长因子受体3基因突变分析
B-mode ultrasound diagnosis in a case of achondroplasia and hydrocephalus B超诊断胎儿软骨发育不全并脑积水1例
Conclusion Com bined with pedigree analysis, it was summarized that achondroplasia patients in this family might result from this new mutation. 结论结合系谱分析,这一新突变可能是导致该家系患者软骨发育不全的原因。