释义 |
Definition of achondroplasia in English: achondroplasianoun əˌkɒndrə(ʊ)ˈpleɪzɪəeɪˌkɒndrə(ʊ)ˈpleɪzɪəāˌkändrəˈplāZH(ē)ə mass nounA 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 adjective əˌkɒndrəˈplastɪkˌeɪˌkɑndrəˈplæstɪk Relating to or affected by the hereditary condition achondroplasia. 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.
adjective əˌkɒndrəˈplastɪkˌeɪˌkɑndrəˈplæstɪk Relating to or affected by the hereditary condition achondroplasia. 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: achondroplasianounāˌkändrəˈplāZH(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. |