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osteogenesis imperfecta type IV with normal sclera
Epidemiology:
- combined incidence of type II, II & IV 1 in 20,000
Pathology:
- connective tissue disorder
Genetics:
- associated with defects in COL1A1
- associated with defects in COL1A2
Clinical manifestations:
- moderately short stature
- mild to moderate scoliosis
- grayish or white sclera
- dentinogenesis imperfecta
General
osteogenesis imperfecta; osteopsathyrosis; fragilitas ossium; Lobstein's disease (OI)
Database Correlations
OMIM correlations
References
OMIM :accession 166220