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14 results
  1. xmlmplus_topics_2025-04-18.xml 
    https://medlineplus.gov/xml/mplus_topics_2025-04-18.xml
    ... related-topic >Growth Disorders</related-topic><see-reference >Achondroplasia</see-reference><site ><information-category >Genetics</information-category><organization >National ...
  2. Dwarfism | Achondroplasia | MedlinePlus 
    https://medlineplus.gov/dwarfism.html
    ... National Library of Medicine) Clinical Trials ClinicalTrials.gov: Achondroplasia (National Institutes of Health) ClinicalTrials.gov: Dwarfism (National Institutes of Health) Journal Articles References and abstracts from MEDLINE/PubMed (National Library of ...
  3. Achondroplasia - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1152
    ... posted live 26 June 1998 (cf) Original submission References Literature Cited Ain MC, Browne JA. Spinal arthrodesis with instrumentation for thoracolumbar kyphosis in pediatric achondroplasia. Spine. 2004; 29 :2075–80. [ PubMed : 15371713 ] Akyol ...
  4. 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 616482 ) AD c.1949A>T (p.Lys650Met) AD = autosomal dominant; AR = autosomal recessive; MOI = mode of inheritance 1. Reference sequences: NM_000142 ​.5 ; NP_000133 ​.1 Differential ...
  5. Hypochondroplasia - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1477
    ... Sequences DNA Nucleotide Change Predicted Protein Change Comment [Reference] NM_000142 ​.4 NP_000133 ​.1 c.829A>G p.Tyr278Cys Phenotype resembles achondroplasia in newborns [ Heuertz et al 2006 , Song et ...
  6. 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 ...
  7. 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 ...
  8. 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 ...
  9. 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>< ...
  10. 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 ...
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