Osteogenesis Imperfecta | PGI MCQs for MD MS Preparations

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.