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单词 achondroplasia
释义

Definition of achondroplasia in English:

achondroplasia

noun əˌkɒndrə(ʊ)ˈpleɪzɪəeɪˌkɒndrə(ʊ)ˈpleɪzɪəāˌkändrəˈplāZH(ē)ə
mass noun
  • A hereditary condition in which the growth of long bones by ossification of cartilage is retarded, resulting in very short limbs and sometimes a face which is small in relation to the skull.

    Example sentencesExamples
    • Sean also has achondroplasia, the medical term for restricted growth.
    • The most common form of dwarfism is achondroplasia.
    • My son has a condition called achondroplasia, which is a form of dwarfism that affects the long bones of the body (arms and legs).
    • Since achondroplasia affects mainly cartilaginous bones (arms and legs), the sitting height is normal while the standing height is short.
    • The diagnosis of achondroplasia, for instance, rests solely on the clinical examination that may include anthropometric measurements and x-rays.
    • The 10-year-old is a huge sports fan and passionate Manchester City supporter but has been unable to compete in out-of-school contests in the past because of hereditary growth disorder achondroplasia.
    • Greg, 29, of Bingley, has achondroplasia which causes severe shortening of the limbs.
    • Still others, such as achondroplasia (the most common form of dwarfism), may either be inherited or the result of a genetic mutation.
    • Mrs Rossi is so tiny because was born with achondroplasia, a genetic condition.
    • It is more common in people who have Down syndrome, achondroplasia, Hunter syndrome, Hurler syndrome, Sanfilippo syndrome, spina bifida, and Arnold-Chiari malformation.
    • Mutations in the transmembrane domain of FGFR3 cause the most common genetic form of dwarfism, achondroplasia.
    • Hypochondroplasia is a similar condition, often diagnosed as the child develops, but the inherent abnormalities are less apparent than with achondroplasia.
    • Examples of autosomal dominant single gene disorders include: Marfan syndrome, achondroplasia, neurofibromatosis, and retinitis pigmentosa.
    • One of them, a little girl, had achondroplasia, a genetic disability in which, among other things, arms and legs do not grow to the same scale as the head and torso, so the person ends up very short.
    • This phenomenon has been described in osteogenesis imperfecta, achondroplasia and Duchenne muscular dystrophy.
    • Not as well known is the fact that certain rare disorders, such as achondroplasia, are more common among births to older fathers.

Derivatives

  • achondroplasic

  • adjective əˌkɒndrəˈplastɪkˌeɪˌkɑndrəˈplæstɪk
    • Relating to or affected by the hereditary condition achondroplasia.

      achondroplastic dwarfism
      Example sentencesExamples
      • The need for rotational skills and control was emphasised by the problem for one swimmer, an achondroplasic.
      • He is a achondroplasic dwarf and has a dislocated vertebra in his neck.
      • The achondroplasic dwarfism or achondroplasy is the most common form of dwarfism with an approximate incidence of 1.5 for each 10,000 live newborns.
  • achondroplastic

  • adjective əˌkɒndrəˈplastɪkˌeɪˌkɑndrəˈplæstɪk
    • Relating to or affected by the hereditary condition achondroplasia.

      achondroplastic dwarfism
      Example sentencesExamples
      • The select committee came up with the scenario of an achondroplastic couple using preimplantation genetic diagnosis to select a child who shared their condition.
      • In contrast to achondroplastic dwarfs, hypopituitary dwarfs often suffer from underlying metabolic health problems.
      • He is also part of a group studying the problems of achondroplastic children and has particular interest in cervico-medullary compression and its treatment.

Origin

Late 19th century: from a-1 'without' + Greek khondros 'cartilage' + plasis 'moulding' + -ia1.

 
 

Definition of achondroplasia in US English:

achondroplasia

nounāˌkändrəˈplāZH(ē)ə
  • A hereditary condition in which the growth of long bones by ossification of cartilage is retarded, resulting in very short limbs and sometimes a face that is small in relation to the (normal-sized) skull.

    Example sentencesExamples
    • Greg, 29, of Bingley, has achondroplasia which causes severe shortening of the limbs.
    • Examples of autosomal dominant single gene disorders include: Marfan syndrome, achondroplasia, neurofibromatosis, and retinitis pigmentosa.
    • The diagnosis of achondroplasia, for instance, rests solely on the clinical examination that may include anthropometric measurements and x-rays.
    • Still others, such as achondroplasia (the most common form of dwarfism), may either be inherited or the result of a genetic mutation.
    • This phenomenon has been described in osteogenesis imperfecta, achondroplasia and Duchenne muscular dystrophy.
    • Mutations in the transmembrane domain of FGFR3 cause the most common genetic form of dwarfism, achondroplasia.
    • Since achondroplasia affects mainly cartilaginous bones (arms and legs), the sitting height is normal while the standing height is short.
    • Mrs Rossi is so tiny because was born with achondroplasia, a genetic condition.
    • Hypochondroplasia is a similar condition, often diagnosed as the child develops, but the inherent abnormalities are less apparent than with achondroplasia.
    • It is more common in people who have Down syndrome, achondroplasia, Hunter syndrome, Hurler syndrome, Sanfilippo syndrome, spina bifida, and Arnold-Chiari malformation.
    • The 10-year-old is a huge sports fan and passionate Manchester City supporter but has been unable to compete in out-of-school contests in the past because of hereditary growth disorder achondroplasia.
    • One of them, a little girl, had achondroplasia, a genetic disability in which, among other things, arms and legs do not grow to the same scale as the head and torso, so the person ends up very short.
    • Not as well known is the fact that certain rare disorders, such as achondroplasia, are more common among births to older fathers.
    • My son has a condition called achondroplasia, which is a form of dwarfism that affects the long bones of the body (arms and legs).
    • The most common form of dwarfism is achondroplasia.
    • Sean also has achondroplasia, the medical term for restricted growth.

Origin

Late 19th century: from a- ‘without’ + Greek khondros ‘cartilage’ + plasis ‘molding’ + -ia.

 
 
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更新时间:2025/2/26 3:08:45