Achondroplasia
  • Autosomal dominant
  • cause of dwarfism
  • failure of long bone growth leading to short limbs due to defect in proliferation of cartilage at the growth plate
    • normal head, vertebral column. normal growth factor levels
    • short limbs
  • mutation in fibroblast growth factor #3
achondroplasiacomparison.jpg
http://www.moondragon.org/obgyn/graphics/achondroplasiacomparison.jpg
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