Osteogenesis imperfecta | PGI May 2017 Preparations MCQ

True about osteogenesis imperfecta 

A. Autosomal dominant 
B. Known as marble bone disease 
C. Blue sclera.
D. Associated with otosclerosis 
E. Defect in collagen I

Ans. (A) Autosomal dominant ; (C) Blue Sclera ; (D) Associated with Otosc1erosis(E) Defect in collagen-I

• Features of osteogenesis Imperfecta 

- Autosomal dominant. 

- Progressivehearing loss, osteosclerosis & positive family history.

- Defect in type I Collagen. 

- Multiple fracture/Skeletal fragility 

- A/W Blue Sclera, dental abnormality. 

• Osteopetrosis is also known as Marble bone disease.