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29 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. 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: ...
  5. 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 ...
  6. Dwarfism | Achondroplasia | MedlinePlus 
    https://medlineplus.gov/dwarfism.html
    ... live as long as other people. Start Here Achondroplasia: About the Disease ... Genetic Testing (For Parents) (Nemours Foundation) ...
  7. Multiple Epiphyseal Dysplasia, Autosomal Dominant - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1123
    ... Pseudoachondroplasia was originally defined as a condition resembling achondroplasia but with normal craniofacial features. Intelligence is normal. At birth, body length is usually normal. The diagnosis is often made between age one and three ...
  8. Short stature 
    https://medlineplus.gov/ency/article/003271.htm
    ... their parents. Sometimes, short stature may be a symptom of a medical condition. Bone or skeletal disorders, such as: Rickets Achondroplasia Long-term (chronic) diseases, such as: Asthma Celiac ...
  9. Muenke Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1415
    ... 99% of persons w/TD type II Severe achondroplasia w/developmental delay & acanthosis nigricans (SADDAN) syndrome (OMIM ... Diagnosis Syndromic craniosynostosis. Table 4 compares and contrasts Muenke ...
  10. Pseudoachondroplasia 
    https://medlineplus.gov/genetics/condition/pseudoachondroplasia
    Pseudoachondroplasia is an inherited disorder of bone growth. It was once thought to be related to another disorder of bone growth called achondroplasia, but without that ...
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