chondrodysplasia sentence in Hindi
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- Conradi H�nermann syndrome is a form of chondrodysplasia punctata, a group of rare genetic disorders of skeletal development involving abnormal accumulations of calcium salts within the growing ends of long bones.
- Perturbations in adenylyl cyclase activity have been implicated in alcohol and opioid addiction and is associated with human diseases, including thyroid adenoma, Anthrax, precocious puberty in males and chondrodysplasia punctata diseases.
- Chondrodysplasia is a disease where a child's growth stops abruptly, resulting in an adult dwarf, with shortened and often deformed arms and legs and is regarded as a congenital deformity.
- Multiple forms of chondrodysplasia punctata share symptoms consistent with KS including abnormal cartilage calcification, forceful respiration, brachytelephalangism, hypotonia, psychomotor delay, and conductive deafness, yet peripheral pulmonary stenosis remains unique to KS.
- Absence of stippling, deposits of calcium, of bones and cartilage, shown on x-ray, does not rule out chondrodysplasia punctata or a normal chondrodysplasia punctata 1 ( CDPX1 ) gene without mutation.
- Absence of stippling, deposits of calcium, of bones and cartilage, shown on x-ray, does not rule out chondrodysplasia punctata or a normal chondrodysplasia punctata 1 ( CDPX1 ) gene without mutation.
- Patients can show craniofacial abnormalities ( such as a high forehead, hypoplastic supraorbital ridges, epicanthal folds, midface hypoplasia, and a large fontanel ), hepatomegaly ( enlarged liver ), chondrodysplasia punctata ( punctate calcification of the cartilage in specific regions of the body ), eye abnormalities, and renal cysts.
- In 1984 in a first-author publication in The New England Journal of Medicine, Dr . Curry and colleagues reported the discovery of one of the first contiguous gene syndromes, a deletion of the terminal short arm of the X chromosome causing the condition known as Chondrodysplasia Punctata, a disabling disorder of bone and connective tissue, associated with mental retardation.
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