Osteogenesis imperfecta type V: clinical and radiographic manifestations in mutation confirmed patients

Am J Med Genet A. 2013 Aug;161A(8):1972-9. doi: 10.1002/ajmg.a.36024. Epub 2013 Jun 26.


Osteogenesis imperfecta (OI) type V is a specific OI phenotype with interosseous membrane calcification of the forearm and hyperplastic callus formation as typical features. The causative gene mutation for OI type V has been recently discovered. The purpose of this report is to review the clinical and radiographic characteristics of mutation confirmed OI type V in detail. Sixteen (nine familial and seven sporadic) patients were enrolled in the study. Blue sclera and dentinogenesis imperfecta were not evident in any patient. However, hypodontia in the permanent teeth, ectopic eruption, and short roots in molars were additionally observed in 11 patients. Of the radiographic abnormalities, cortical thickening and bony excrescence of interosseous margin of the ulna was the most common finding, followed by overgrowth of the olecranon and/or coronoid process of the ulna. Slender ribs and sloping of the posterior ribs with or without fractures were also a consistent finding. Hyperplastic callus was detected in 75% of patients and was commonly encountered at the femur. Heterotopic ossification in the muscles and tendon insertion sites were noted in four patients, which resulted in bony ankylosis or contracture of joints. The current study confirms common clinical and radiographic findings of OI type V and reports additional phenotypic information. These observations provide clues to recognize OI type V more promptly and guide to direct targeted molecular study. © 2013 Wiley Periodicals, Inc.

Keywords: fractures; heterotopic ossification; hyperplastic callus; interosseous membrane; osteogenesis imperfecta.

MeSH terms

  • Adult
  • Bone and Bones / diagnostic imaging*
  • Bone and Bones / pathology
  • Child
  • Child, Preschool
  • DNA / analysis
  • DNA / genetics
  • Female
  • Humans
  • Infant
  • Male
  • Membrane Proteins / genetics*
  • Middle Aged
  • Mutation / genetics*
  • Osteogenesis Imperfecta / classification
  • Osteogenesis Imperfecta / diagnostic imaging*
  • Osteogenesis Imperfecta / genetics*
  • Phenotype
  • Polymerase Chain Reaction
  • Radiography


  • IFITM5 protein, human
  • Membrane Proteins
  • DNA