achondroplasia

achondroplasia

美 [eɪˌkɒndrə'pleɪʒə] 　英 [eɪˌkɒndrə'pleɪʒə]

• n.【医】软骨发育不全
• 网络软骨发育不全症；软骨发育不良；先天性软骨发育不全

英汉解释

n.	1. 【医】软骨发育不全

英英解释

n.	1. a genetic disorder in which cartilage fails to develop into bone during early stages of development, resulting in dwarfism

例句

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。

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。

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 .

根据《印度记录》，这个花季少女是世界上身材最矮小的人，她的这种病症被称作软骨发育不全。

Objective: To study the clinical, sonographic, radiographic and pathologic characteristics of achondroplasia .

目的研究软骨发育不全的临床、影像学和病理学表现。

Genetical diagnosis in a congenital achondroplasia family

先天性软骨发育不全一家系的基因诊断

Hereditary dwarfisms include achondroplAsia, with normal trunk size But short limbs and a large head;

遗传性侏儒症包括︰软骨发育不全，躯干发育正常，但肢体极短，头较大；

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

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

Ultrasonic diagnosis of fetus achondroplasia (analysis of 7 cases)

胎儿软骨发育不全的超声诊断（附7例分析）

X-ray analysis of achondroplasia in children

小儿软骨发育不全的X线分析