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

More general terms

• osteogenesis imperfecta

Database

• OMIM: https://mirror.omim.org/entry/166200
• OMIM: https://mirror.omim.org/entry/259420