achondroplasia

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。

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。

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。

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。

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

is useful in preventing the action of the achondroplasia gene .

在抑制软骨发育不全基因方面，非常有效

Twenty-five cases of achondroplasia followed for a period of recent three years are reviewed .

我们分析在3年中遇到的25例软骨发育不全侏儒。

Study of perinatals ' characteristics of achondroplasia in China

中国围产儿软骨发育不全特征分析

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

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

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

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。

Achondroplasia is the most common form of dwarfism ,

软骨发育不全是侏儒症最常见的表现形式，

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。

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。

" 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；

A compound that has been tested in mice , BMN-111 , is useful in preventing the action of the achondroplasia gene .

有一种叫BMN-111的化合物，经老鼠实验，在抑制软骨发育不全基因方面非常有效。

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。

Diagnosing achondroplasia by single cell nested-PCR

单细胞巢式PCR诊断软骨发育不全

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。

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。

Achondroplasia ( ACH ) is a common autosomal dominant inheritant dwarf caused by defection of cartilaginous ossification .

先天性软骨发育不全（achondroplasia，ACH）是由于软骨内成骨缺陷所致的一种最常见的常染色体显性遗传性侏儒，新生儿发病率为1-15/10万。

Jyoti weighs just 12lbs ( 5.5kg ) - only 9lbs more than she did at birth - and has a form of dwarfism call achondroplasia , which stopped her growing after her first birthday .

Jyoti体重仅有12磅（5.5千克），只比出生时重了9磅。她患有软骨发育不全症（属于侏儒症的一种），使得她从一周岁生日后就停止了生长。