Search
osteogenesis imperfecta type III
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:
- progressively deforming bones
- very short stature
- triangular face
- severe scoliosis
- grayish sclera
- dentinogenesis imperfecta
General
osteogenesis imperfecta; osteopsathyrosis; fragilitas ossium; Lobstein's disease (OI)
Database Correlations
OMIM correlations
References
OMIM :accession 259420