Osteogenesis Imperfecta

Question 1

What is defective in osteogenesis imperfecta?

Answer 1

Type 1 collagen

Question 2

What are the 4 types of osteogenesis imperfecta?

Answer 2

Type 1 = mild (child can still walk)

Type 2 = lethal by age 1

Type 3 = progressively disforming - severe bone dysplasia and growth defects

Type 4 = 1 but more severe

Question 3

Typical presentation

Answer 3

Child stops walking and presents with blue sclera. Parents have noticed he can’t hear them calling him

Question 4

Symptoms?

Answer 4

Growth deformity 
Poor dentition (clear teeth)
BLUE SCLERA
Hearing loss
Scoliosis
Barrel chest