Bone Fragility

Question 1

[Gen/Bone Fragility/OI]

Distinguishing characteristics of osteogenesis imperfecta vs child abuse? (Absence in OI) (2)

Answer 1

1. Retinal hemorrhage
2. Subdural hematomas

Question 2

[Gen/Bone Fragility/OI]

Types of COL1A1/2 osteogenesis imperfecta?
Type 1: ____
Type 2: ____
Type 3: ____
Type 4: ____

Answer 2

Type 1: Classic non-deforming OI with blue sclerae
Type 2: Perinatally lethal OI
Type 3: Progressively deforming OI
Type 4: Common variable OI with normal sclerae

Question 3

[Gen/Bone Fragility/OI]

Most common type of COL1A1/2 osteogenesis imperfecta?

Answer 3

Type 1: Classic non-deforming OI with blue sclerae

Question 4

[Gen/Bone Fragility/OI]

Orthopedic characteristics of type 1 OI (Classic non-deforming OI with blue sclerae)? (4)

Answer 4

1. Multiple fractures - mimic child abuse, occurs not at birth but in childhood
2. Delayed fontanelle closure
3. Hyperextensible joints
4. Decreased stature - near normal, low normal

Question 5

[Gen/Bone Fragility/OI]

Other clinical characteristics of type 1 OI? (3)

Answer 5

1. Blue sclerae
2. Hearing loss
3. Dentinogenesis imperfecta - delayed tooth eruption (rare)

Question 6

[Gen/Bone Fragility/OI]

Clinical characteristics of type 2 OI? (2)

Answer 6

Fractures at birth
Death in the newborn period due to respiratory failure

Question 7

[Gen/Bone Fragility/OI]

Clinical characteristics of type 3 Osteogenesis Imperfecta (progressively deforming)? (5)

Answer 7

1. Fractures at birth
2. Progressively deforming bones
3. Hearing loss
4. Short stature
5. Neurologic complications: hydrocephalus, basilar skull invagination

Question 8

[Gen/Bone Fragility/OI]

Hallmark of type 4 OI?

Answer 8

Tibial bowing