Pyknodysostosis

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[edit] Discussion

  • Autosomal recessive transmission
  • Chararacterized by:
    • Osteosclerosis
    • Frontal and occipital bossing
    • Short stature
    • Short broad hands and hypoplasia of the nails
  • Often the patients have multiple fractures.

[edit] Imaging Findings

  • Narrowed medullary cavities
  • Acroosteolysis
  • Marked delay in closure of the sutures
  • Wormian bones
  • Sclerosis of veretbral bodies and errors in vertebral segmentation

[edit] Images

Patient #1: Henri de Toulouse-Lautrec

Patient #2: Radiographs of a patient with pyknodysostosis

[edit] See Also

[edit] External Links

[edit] References