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单词 achondroplasia
释义

achondroplasia /ə,kɒndrə(ʊ)'pleɪzɪə//e,kɑndrə'pleʒə/

英汉-汉英词典
n. 软骨发育不全
词组 | 习惯用语
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  • hypochondriac n. 疑病症患者 adj. 患疑病症的
  • hypochondria n. 疑病症
  • chloroplast n. 叶绿体
  • underpopulation n. 人口稀少
achondroplasia n. [外科] 软骨发育不全

网络短语:
achondroplasia rib 肋软骨发育不全
acpl achondroplasia
heterozygous achondroplasia 杂合型软骨发育不良
fowl achondroplasia 家禽软骨症
foetal achondroplasia 胎软骨发育不全
congenital achondroplasia 先天性软骨发育不全
achondroplasia chondrodystrophy 软骨营养障碍
bovine achondroplasia 牛软骨发育不全
achondroplasia syndrome 软骨发育不全综合征
中文百科

软骨发育不全症

软骨发育不全症(Achondroplasia)是一种显性遗传病,患者位于第四对染色体上基因「纤维芽细胞生长因子第三号接受体」出现缺陷,引致骨骼发育不良,身材极度矮小、鼻梁塌陷、脊椎弯曲、手指脚趾粗短、下肢较短且常呈O型腿等现象,大多数患者的智能完全正常。

其发生率为1/25000至1/40000。

遗传方面,其绝大多数是因为基因突变所致、也有由单基因从一代传给下一代、精子或卵子在形成时发生FGFR-3的基因突变或父母一方有软骨发育不全。

英语百科

Achondroplasia 软骨发育不全症

Detail of Las Meninas by Diego Velázquez (1656), showing Maribarbola and Nicolasito Pertusato (right), achondroplastic dwarfs in the entourage of Infanta Margarita

Achondroplasia is a common cause of dwarfism. It occurs as a sporadic mutation in approximately 80% of cases (associated with advanced paternal age) or it may be inherited as an autosomal dominant genetic disorder.

People with achondroplasia have short stature, with an average adult height of 131 centimeters (52 inches) for males and 123 centimeters (48 inches) for females. Achondroplastic adults are known to be as short as 62.8 cm (24.7 in). If both parents of a child have achondroplasia, and both parents pass on the mutant gene, then it is very unlikely that the homozygous child will live past a few months of its life. The prevalence is approximately 1 in 25,000.

近义、反义、联想词
近义词
n.
genetic disease, genetic disorder, genetic abnormality, genetic defect, congenital disease, inherited disease, inherited disorder

联想词
congenital先天的,天生的;epilepsy癫痫,癫痫症;abnormalities异常情况;osteoporosis骨质疏松症;hypothyroidism甲状腺机能减退;abnormality不正常,反常,变态,畸形;osteoarthritis骨关节炎;phenotype显型;
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更新时间:2025/6/18 6:30:49