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90 results

  1. Criteria for Determining Disability in Infants and Children: Short Stature: Summary - AHRQ Evidence Report Summaries - .... 
    https://www.ncbi.nlm.nih.gov/books/NBK11958
    ... in achievement of motor skills in children with achondroplasia and osteogenesis imperfecta, and decreased ambulation, range of ... studies examined academic achievement among 84 children with achondroplasia or osteogenesis imperfecta. In two studies, achondroplasia patients ...
  2. Thanatophoric Dysplasia - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1366
    ... 6.5 SD below the mean on the achondroplasia growth charts; OFC at +1 SD in infancy ... 1) who presented with features labeled as atypical achondroplasia. Genotype-Phenotype Correlations TD type 1. FGFR3 pathogenic ...
  3. xmlTopicIndex.xml 
    https://medlineplus.gov/download/TopicIndex.xml
    ... topic><topic ><url >https://medlineplus.gov/genetics/condition/achondroplasia</url><title >Achondroplasia</title><other_names ><other_name >ACH</other_name>< ...
  4. Autosomal Dominant Robinow Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK268648
    ... associated with short stature or mesomelic limb shortening. Achondroplasia is an autosomal dominant disorder caused by mutation of FGFR3 . Facial features characteristic of achondroplasia are similar to those of ADRS (macrocephaly, high ...
  5. FAM111A-Related Skeletal Dysplasias - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK590151
    ... bones Extreme platyspondyly Hypoplastic ilia Macrocephaly FGFR3 Homozygous achondroplasia AD Typically lethal in perinatal period Short stature ... metaphyses Frontal bossing Midface retrusion Family history of achondroplasia in both parents Megalencephaly Upper airway obstruction Foramen ...
  6. 2019New_Mesh_Tree_Hierarchy.txt 
    https://www.nlm.nih.gov/.../download/2019New_Mesh_Tree_Hierarchy.txt
    ... 099.343 Dwarfism C05.116.099.343.110 Achondroplasia C05.116.099.343.110.500 Thanatophoric Dysplasia ... 099.708 Osteochondrodysplasias C05.116.099.708.017 Achondroplasia C05.116.099.708.017.500 Thanatophoric Dysplasia ...
  7. NLM Digital Collections - Diseases of the nervous system : a text-book of neurology and psychiatry 
    Publication: Philadelphia : Lea & Febiger, 1923
    resource.nlm.nih.gov/41331410R
    ... the absence of the typical signs of cretinism. Achondroplasia should not ... par- ticularly with reference to the matter of treatment, as treatment is ...
  8. NLM Digital Collections - Index-catalogue of the Library of the Surgeon-General's Office, United States Army. Authors ... 
    Publication: Washington : G.P.O., 1880-1932
    resource.nlm.nih.gov/8104689X46
    ... Aleksiel Konstantinovich) [1873- ]. *Akhondroplaziya u chelovieka; klinicheskoye izsliedovaniye. [Achondroplasia in man; clini- cal investigation.] 172 pp., 1 ...
  9. Diastrophic Dysplasia - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1350
    ... that time, they described a disorder that "resembled achondroplasia in the newborn period but had a quite ... posted live 17 February 2004 (asf) Original submission References Literature Cited Barbosa M, Sousa AB, Medeira A, ...
  10. SLC26A2-Related Multiple Epiphyseal Dysplasia - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1306
    ... whose incidences are more precisely known (e.g., achondroplasia , osteogenesis imperfecta ), it seems reasonable to estimate an ... posted live 25 February 2002 (db) Original submission References Literature Cited Balasubramanian K, Li B, Krakow D, ...
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