Osteopetrosis: further heterogeneity

J Pediatr. 1980 Oct;97(4):580-5. doi: 10.1016/s0022-3476(80)80012-6.


A form of osteopetrosis is described in two sibs which differs from the well-established autosomal dominant and recessive forms. The clinical course is mild with no evidence of clinically important encroachment upon the bone marrow or cranial nerve foramina; the skeletal radiographs show a mild generalized increase in bone density and metaphyseal modeling defects affecting primarily the distal femurs. The inheritance pattern is compatible with either an autosomal or X-linked recessive mode. The histologic features are distinct as well, and suggest that the pathogenesis of the condition differs from that of the usual forms of osteopetrosis.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Child
  • Child, Preschool
  • Genes, Recessive
  • Humans
  • Male
  • Osteoclasts / physiology
  • Osteopetrosis / diagnostic imaging
  • Osteopetrosis / genetics*
  • Osteopetrosis / pathology
  • Radiography