Van Buchem disease

  • generalized cortical hyperostosis
  • chromosome 17 defect
  • autosomal recessive
clinical
  • facial nerve palsy
  • auditory and ocular symptoms
  • increased ALP
MSK
  • skull, mandible, clavicles, ribs, long-bone diaphyses
  • generalized sclerosis
  • thick endosteal cortex
  • diploe is obliterated
  • thick sclerotic spinous process