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achondroplasia


most common type of short limbed dwarfism; caused by defect in enchondral bone formation => shortening of tubular bones with normal shaft caliber

  • hereditary: auto-dominant, > 90% sporadic

x-ray features:
  • short extremities and ribs v. trunk length
  • "ball-in-socket" epiphyses
  • pelvis: squared iliac wings and narrow sacrosciatic notch ("champagne glass")
  • hands: fingers widely opposed and equal length ("trident hands")
  • skull: enlarged vault and mandible, small f. magnum
  • spine:
    • narrow AP diameter with concave posterior surface and spinal canal only 1/2 normal depth
    • decreased lumbar interpediculate distance
    • hypoplastic ("bullet nose") T-L vertebrae


Brian Funaki, MD  -  6 February 1995
Last updated:  1 October 2013


 

Related CHORUS documents:
progeria (Hutchinson-Gilford) syndrome
Hurler's syndrome
Marfan syndrome
bullet shaped vertebrae
polydactyly
posterior vertebral scalloping

 

Copyright © 2013, Charles E. Kahn, Jr.