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osteogenesis imperfecta type I; osteogenesis imperfecta tarda

Mildest form. Divided into types 1A & 1B depending upon whether abnormal dentition (dentinogenesis imperfecta) is present. Epidemiology: 1) 1 in 30,000 2) inheritance: autosomal dominant Pathology: - connective tissue disorder Genetics: - associated with defects in COL1A1 [3] - associated with defects in COL1A2 [4] Clinical manifestations: 1) blue sclera 2) hearing loss 3) bone fragility variable 4) non-deforming with normal height or mild short stature 5) no dentinogenesis imperfecta

Specific

osteogenesis imperfecta type I/COL1A1 mutation associated osteogenesis imperfecta type I/COL1A2 mutation associated

General

osteogenesis imperfecta; osteopsathyrosis; fragilitas ossium; Lobstein's disease (OI)

Database Correlations

OMIM 166200

References

  1. Harrison's Principles of Internal Medicine, 14th ed. Fauci et al (eds), McGraw-Hill Inc. NY, 1998, pg 2187-89
  2. OMIM :accession 166200
  3. OMIM :accession 120150
  4. OMIM :accession 120160