Osteogenesis Imperfecta Flashcards Preview

Conditions: Rheumatology > Osteogenesis Imperfecta > Flashcards

Flashcards in Osteogenesis Imperfecta Deck (4)
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1
Q

What is defective in osteogenesis imperfecta?

A

Type 1 collagen

2
Q

What are the 4 types of osteogenesis imperfecta?

A

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

3
Q

Typical presentation

A

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

4
Q

Symptoms?

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