Heterogeneity of autosomal dominant osteopetrosis

Radiology. 1987 Jul;164(1):223-5. doi: 10.1148/radiology.164.1.3588909.


A review of the radiographs of 26 patients with autosomal dominant osteopetrosis disclosed two distinct and strictly family-related radiographic types. Both types had universal osteosclerosis. In type 1 the most striking finding was pronounced sclerosis of the cranial vault while the spine was almost unaffected. In type 2 the sclerosis of the skull was most pronounced at the base, the vertebrae always had end-plate thickening, and in the pelvis the iliac wings contained convex arcs of sclerotic bone. Age and sex distribution did not differ between the types. Autosomal dominant osteopetrosis may be a heterogeneous group of inherited bone disorders.

MeSH terms

  • Adolescent
  • Adult
  • Aged
  • Child
  • Female
  • Humans
  • Lumbar Vertebrae / diagnostic imaging
  • Male
  • Middle Aged
  • Osteopetrosis / classification
  • Osteopetrosis / diagnostic imaging*
  • Osteopetrosis / genetics
  • Pelvic Bones / diagnostic imaging
  • Radiography
  • Skull / diagnostic imaging
  • Thoracic Vertebrae / diagnostic imaging