achondroplasia

简明释义

英[eɪˌkɒndrəˈpleɪzɪə]美[eɪˌkɑːndrəˈpleɪʒə]

n. [外科] 软骨发育不全

英英释义

单词用法

同义词

反义词

例句

1.Purpose To investigate the pathologic characteristics of achondroplasia.

目的研究软骨发育不全的病理学特征。

2.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。

3.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。

4.Search for "achondroplasia" at Google or Yahoo!, for example, and you will be steered towards results sorted under the headings of treatments, causes, research and so on.

比如在Google和雅虎上搜索“achondroplasia”，你会被直接导航到列在治疗、原因、研究结果等不同的标题下。

5.Search for "achondroplasia" at Google or Yahoo!, for example, and you will be steered towards results sorted under the headings of treatments, causes, research and so on.

比如在Google和雅虎上搜索“achondroplasia”，你会被直接导航到列在治疗、原因、研究结果等不同的标题下。

6.Living with achondroplasia can present unique challenges in daily activities.

生活中患有侏儒症可能会在日常活动中面临独特的挑战。

7.Children with achondroplasia have a characteristic appearance, including shorter stature.

患有侏儒症的儿童具有特征性的外貌，包括身材矮小。

8.Research on achondroplasia focuses on understanding its genetic causes.

关于侏儒症的研究集中在理解其遗传原因上。

9.Doctors often diagnose achondroplasia through physical examination and genetic testing.

医生通常通过身体检查和基因测试来诊断侏儒症。

10.Support groups for families of children with achondroplasia provide valuable resources.

针对患有侏儒症儿童家庭的支持小组提供了宝贵的资源。

作文

Achondroplasia is a genetic disorder that affects bone growth, leading to a form of dwarfism characterized by short stature and disproportionate body features. Individuals with achondroplasia often have an average-sized trunk but shorter limbs, particularly the upper arms and thighs. This condition is caused by a mutation in the fibroblast growth factor receptor 3 (FGFR3) gene, which plays a crucial role in regulating bone growth. As a result of this mutation, the growth plates in the long bones close prematurely, inhibiting normal skeletal development. Living with achondroplasia can present various challenges. While many individuals lead healthy and fulfilling lives, they may face physical complications such as spinal stenosis, obesity, and ear infections. These health issues often require regular medical attention and, in some cases, surgical interventions. Furthermore, social challenges can arise due to the visible differences in height and body proportions. Children with achondroplasia may encounter bullying or discrimination, emphasizing the need for awareness and education about the condition.Despite these challenges, it is essential to recognize the strengths and capabilities of individuals with achondroplasia. Many have excelled in various fields, including sports, arts, and sciences, proving that height does not determine one's potential for success. Advocacy groups play a significant role in promoting inclusivity and acceptance for those with this condition. They work tirelessly to educate the public about achondroplasia and to foster a more inclusive society that values diversity.In terms of treatment, there is currently no cure for achondroplasia, but management strategies can help improve quality of life. Regular check-ups with healthcare professionals who specialize in genetics and orthopedics are crucial for monitoring growth and addressing any health concerns. Physical therapy can also be beneficial in enhancing mobility and strength. Additionally, psychological support can help individuals cope with the emotional aspects of living with a visible difference, promoting self-esteem and resilience.The advancements in genetic research offer hope for future treatments. Scientists are exploring gene therapy and other innovative approaches that could potentially alter the course of achondroplasia. While these treatments are still in the experimental stages, they represent a promising direction for those affected by this condition.In conclusion, achondroplasia is a complex genetic disorder that significantly impacts individuals' lives. Understanding the medical, social, and emotional dimensions of this condition is vital for fostering empathy and support. By raising awareness and advocating for inclusivity, we can create a society where individuals with achondroplasia are celebrated for their unique contributions rather than defined by their differences. As we continue to learn more about achondroplasia and its implications, we must remain committed to supporting those affected and ensuring they have equal opportunities to thrive in all aspects of life.

软骨发育不良是一种影响骨骼生长的遗传疾病，导致一种以矮小身材和不成比例的身体特征为特征的侏儒症。患有软骨发育不良的人通常拥有平均大小的躯干，但四肢较短，特别是上臂和大腿。这种情况是由成纤维生长因子受体3（FGFR3）基因的突变引起的，该基因在调节骨骼生长中起着至关重要的作用。因此，由于这种突变，长骨的生长板过早闭合，抑制了正常的骨骼发育。生活在软骨发育不良的环境中可能会带来各种挑战。虽然许多人过着健康而充实的生活，但他们可能面临着诸如脊椎管狭窄、肥胖和耳部感染等身体并发症。这些健康问题通常需要定期的医疗关注，并在某些情况下需要外科干预。此外，由于身高和身体比例上的明显差异，社会挑战也可能出现。患有软骨发育不良的儿童可能会遭遇欺凌或歧视，这突显了对该病症的认识和教育的必要性。尽管面临这些挑战，但必须认识到患有软骨发育不良的个体的优点和能力。许多人在体育、艺术和科学等各个领域都取得了卓越成就，证明身高并不决定一个人成功的潜力。倡导团体在促进包容性和接受那些有这种状况的人方面发挥着重要作用。他们不懈努力，向公众普及软骨发育不良的知识，促进一个更具包容性的社会，重视多样性。在治疗方面，目前尚无软骨发育不良的治愈方法，但管理策略可以帮助改善生活质量。定期与专注于遗传学和整形外科的医疗专业人员进行检查对于监测生长和解决任何健康问题至关重要。物理治疗也可以在增强活动能力和力量方面起到积极作用。此外，心理支持可以帮助个体应对生活中的可见差异所带来的情感问题，促进自尊心和韧性。在基因研究方面的进展为未来的治疗提供了希望。科学家们正在探索基因治疗和其他创新方法，这些方法可能会改变软骨发育不良的发展过程。虽然这些治疗仍处于实验阶段，但它们代表了对那些受此病影响的人的有希望的方向。总之，软骨发育不良是一种复杂的遗传疾病，对个体的生活产生重大影响。理解这种疾病的医学、社会和情感层面对于培养同情心和支持至关重要。通过提高认识和倡导包容性，我们可以创造一个庆祝患有软骨发育不良的个体独特贡献的社会，而不是仅仅根据他们的差异来定义他们。随着我们继续了解软骨发育不良及其影响，我们必须始终致力于支持受影响的人，并确保他们在生活的各个方面都有平等的机会。