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121 results
  1. Thanatophoric Dysplasia - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1366
    ... I, Gouze E. Postnatal soluble FGFR3 therapy rescues achondroplasia symptoms and restores bone growth in mice. Sci Transl ...
  2. Achondroplasia - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1152
    ... testing for a pregnancy at increased risk for achondroplasia is possible. Diagnosis Both the clinical and radiologic features of achondroplasia ... diagnostic algorithms have been published. Suggestive Findings The diagnosis of achondroplasia should be suspected in the newborn with proximal ...
  3. Hypochondroplasia - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1477
    ... determined that about 70% of symptomatic individuals with achondroplasia experienced total relief of symptoms following decompression without laminectomy. The L2-L3 level ...
  4. NLM Digital Collections - Thyroid and thymus 
    Publication: Philadelphia ; New York : Lea & Febiger, 1922
    resource.nlm.nih.gov/40830350R
    ... 612 thyroids, anatomy of, 19 “Accoucheur’s” hand, 598 Achondroplasia, diagnosis of, from cretin- ism, 231 Acidosis, operations on ... disease, 384 Cretinism, 220 deaf-mutism and, 241 diagnosis of, 228 from achondroplasia, 231 from chondrodystrophia fetalis, 23I. from infantilism, 232 ...
  5. NLM Digital Collections - Differential diagnosis of internal diseases 
    Publication: New York : London ; D. Appleton and Company, 1923
    resource.nlm.nih.gov/32710210R
    ... symptoms of, in diabetes mellitus, 451. Achiria, 567. Achondroplasia, characteristic symptoms of, 547. definition of 547. differentiated from: cretinism, ...
  6. NLM Digital Collections - Dwarfism in the Amish: I. The Ellis-van Creveld Syndrome 
    Publication: Johns Hopkins Press, [1964]
    resource.nlm.nih.gov/101584632X91
    ... 24832-59): “Prematurity. Polydactylism of hands. Cleft palate. Achondroplasia.” The diagnosis of cleft palate is probably in error; partial ...
  7. NLM Digital Collections - Internal medicine: a work for the practicing physician on diagnosis and treatment (Volume 2) 
    Publication: Philadelphia : J.B. Lippincott Company, [1923]
    resource.nlm.nih.gov/32731250RX2
    ... Hemifacial Atrophy 844 VI. Osteitis Deformans 845 VII. Achondroplasia 848 XVIII. THE DIAGNOSIS OF DISEASES OF THE MUSCLES. I. Myositis 849 ... are apt to be very intelligent. The direct diagnosis of achondroplasia is unattended with difficulty. It is to be ...
  8. NLM Digital Collections - Index-catalogue of the Library of the Surgeon General's Office, United States Army (Series 4, ... 
    Publication: Washington : U.S. G.P.O., 1936-1948
    resource.nlm.nih.gov/8104688X1
    ... 87-102—Wheeldon, T. F. A study of achondroplasia introducing a new symptom a wedge-shaped vertebra. Am. J. Dis. Child, 1920, 19: 1-37. Also repr—Willis, F. E. S. Case of achondroplasia with unusual features. Proc. Roy. Soc. Med, Lond, ...
  9. Achondroplasia 
    https://medlineplus.gov/ency/article/001577.htm
    ... chap 716. Krakow D. FGFR3 disorders: thanatophoric dysplasia, achondroplasia, and hypochondroplasia. In: Copel JA, D'Alton ME, Feltovich H, et al, eds. Obstetric Imaging: Fetal Diagnosis and Care. 2nd ed. Philadelphia, PA: Elsevier; 2018: ...
  10. Criteria for Determining Disability in Infants and Children: Short Stature: Summary - AHRQ Evidence Report Summaries - .... 
    https://www.ncbi.nlm.nih.gov/books/NBK11958
    ... contained patients referred for their respiratory or neurologic symptoms, and therefore may not represent the general achondroplasia population. Further studies that look at larger groups ...
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