osteogenesis imperfecta type I; osteogenesis imperfecta tarda
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Introduction
Mildest form. Divided into types 1A & 1B depending upon whether abnormal dentition (dentinogenesis imperfecta) is present.
Epidemiology
- 1 in 30,000
- inheritance: autosomal dominant
Pathology
Genetics
Clinical manifestations
- blue sclera
- hearing loss
- bone fragility variable
- non-deforming with normal height or mild short stature
- no dentinogenesis imperfecta
More general terms
More specific terms
- osteogenesis imperfecta type I/COL1A1 mutation associated
- osteogenesis imperfecta type I/COL1A2 mutation associated
References
- ↑ Harrison's Principles of Internal Medicine, 14th ed. Fauci et al (eds), McGraw-Hill Inc. NY, 1998, pg 2187-89
- ↑ OMIM https://mirror.omim.org/entry/166200
- ↑ 3.0 3.1 OMIM https://mirror.omim.org/entry/120150
- ↑ 4.0 4.1 OMIM https://mirror.omim.org/entry/120160