Osteogenesis imperfecta and hyperplastic callus formation in a family: a report of three cases and a review of the literature

J Pediatr Orthop B. 2003 Mar;12(2):88-96. doi: 10.1097/01.bpb.0000043724.21564.32.

Abstract

Osteogenesis imperfecta is one of the most common groups of inherited disorders of connective tissue. Hyperplastic callus formation in patients with osteogenesis imperfecta after fracture or surgery is a rare occurrence that has often been misdiagnosed as osteosarcoma. Previous series reported that hyperplastic callus formation is more often present in osteogenesis imperfecta male patients, with white sclerae, and a negative family history of the disorder. This is the first time that this complication has been presented in three female siblings, with a positive family history of osteogenesis imperfecta type IV. An association between osteogenesis imperfecta type IV and hyperplastic callus formation is unclear. This association might, however, be a separate, specific subtype of osteogenesis imperfecta, with an unknown inheritance pattern.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Adolescent
  • Bony Callus / diagnostic imaging*
  • Bony Callus / physiopathology
  • Child
  • Diagnostic Imaging / methods
  • Female
  • Femoral Fractures / diagnostic imaging
  • Femoral Fractures / surgery
  • Fracture Fixation, Intramedullary / adverse effects
  • Fracture Fixation, Intramedullary / methods*
  • Fracture Healing / physiology
  • Fractures, Spontaneous / complications
  • Fractures, Spontaneous / diagnosis
  • Fractures, Spontaneous / surgery*
  • Humans
  • Inheritance Patterns
  • Magnetic Resonance Imaging
  • Osteogenesis Imperfecta / complications
  • Osteogenesis Imperfecta / diagnosis*
  • Osteogenesis Imperfecta / genetics*
  • Pedigree
  • Prognosis
  • Radionuclide Imaging / methods
  • Risk Assessment
  • Tomography, X-Ray Computed / methods
  • Treatment Outcome