Autosomal dominant osteopetrosis and maxillomandibular osteomyelitis

Am J Otolaryngol. Jul-Aug 2005;26(4):275-8. doi: 10.1016/j.amjoto.2005.01.007.


Osteopetroses represent a heterogeneous group of rare, hereditary bony dysplasias. They range from a devastating neurometabolic disease (including severe malignant infantile osteopetrosis) to 2 more benign conditions principally affecting adults: autosomal dominant osteopetrosis (ADO) type I and type II. The present study describes the maxillofacial manifestations associated with the 2 subgroups of ADO. In this paper, we present the oldest patient described in the literature with ADO type I (76 years old). We also document the first ADO type II patient described in the literature with synchronic osteomyelitis of the mandible and the maxilla.

Publication types

  • Case Reports

MeSH terms

  • Aged
  • Chromosome Disorders / complications
  • Chromosome Disorders / genetics*
  • Chromosome Disorders / pathology*
  • Female
  • Humans
  • Jaw Diseases / diagnostic imaging
  • Jaw Diseases / etiology
  • Male
  • Maxillofacial Abnormalities / diagnostic imaging
  • Maxillofacial Abnormalities / etiology*
  • Middle Aged
  • Osteomyelitis / diagnostic imaging
  • Osteomyelitis / etiology
  • Osteopetrosis / complications
  • Osteopetrosis / genetics*
  • Osteopetrosis / pathology*
  • Tomography, X-Ray Computed