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osteogenesis imperfecta

MIM.166210

Wednesday 26 May 2004

Autosomal dominant disease.

Synopsis

- systemic anomalies

  • perinatal death
  • premature birth
  • nonimmune hydrops
  • low birth weight

- ocular anomalies

  • blue sclerae

- craniofacial anomalies

- skeletal anomalies

  • short limb dwarfism
  • beaded ribs
  • numerous multiple fractures present at birth
  • soft calvaria
  • absent calvarial mineralization
  • hips usually flexed and abducted (frog-leg position)
  • flattened acetabulae and iliac wings
  • tibial bowing
  • broad crumpled long bones
  • telescoped femur

- thin skin
- congestive heart failure
- pulmonary insufficiency

Types

- Osteogenesis imperfecta type 1 (OI type 1)is a dominantly inherited, generalized connective tissue disorder characterized mainly by bone fragility and blue sclerae.
- Osteogenesis imperfecta type 2 (OI type 2)
- Osteogenesis imperfecta type 3
- Osteogenesis imperfecta type 4 (MIM.166220)
- Osteogenesis imperfecta with opalescent teeth (MIM.166240)

Etiology

- mutations in COL1s genes

  • mutations in COL1A1 gene (MIM.120150)
  • mutations in COL1A2 gene (MIM.120160)

- gonadal and somatic mosaicism reported in parent

References

- Millington-Ward S, McMahon HP, Farrar GJ. Emerging therapeutic approaches for osteogenesis imperfecta. Trends Mol Med. 2005 Jun;11(6):299-305. PMID: 15949772

Portfolio

  • Multiple costal fractures in osteogenesis imperfecta (21 weeks)
  • Limb deformations in osteogenesis imperfecta
  • Limb deformations in osteogenesis imperfecta
  • Osteogenesis imperfecta (21 weeks)
  • Osteogenesis imperfecta (21 weeks)
  • Osteogenesis imperfecta (21 weeks)
  • Osteogenesis imperfecta type 2 (16 weeks)
  • Osteogenesis imperfecta
  • Osteogenesis imperfecta (21 weeks)
  • Osteogenesis imperfecta (21 weeks) with normal control
  • Osteogenesis imperfecta (21 weeks) with normal control
  • Osteogenesis imperfecta
  • Osteogenesis imperfecta