Search
osteogenesis imperfecta type II; osteogenesis imperfecta congenita, neonatal lethal form
Most cases from new dominant mutations
Epidemiology: 1 in 60,000
Pathology:
- connective tissue disorder
Genetics:
- associated with defects in COL1A1 [2]
- associated with defects in COL1A2 [3]
Clinical manifestations:
- bone fragility, with many perinatal fractures
- severe bowing of long bones
- undermineralization
- perinatal death due to respiratory insufficiency
Specific
osteogenesis imperfecta type II/COL1A1 mutation associated
osteogenesis imperfecta type II/COL1A2 mutation associated
General
osteogenesis imperfecta; osteopsathyrosis; fragilitas ossium; Lobstein's disease (OI)
Database Correlations
OMIM correlations
MORBIDMAP correlations
References
- OMIM :accession 166210
- OMIM :accession 120150
- OMIM :accession 120160