Weird Diseases

Question 1

What is the most common congenital dwarfing skeletal dysplasia?

Answer 1

Achondroplasia

Question 2

Unique about the life expectancy and mental state of those with achondroplasia?

Answer 2

Normal

Question 3

Which long bones are primarily affected by achondroplasia?

Answer 3

Rhizomelic (proximal)

Question 4

What is the characteristic appearance of the hands in those with achondroplasia?

Answer 4

Trident hands

Question 5

What radiographic pelvic feature is associated with achondroplasia?

Answer 5

“Champagne glass” (narrow broad pelvic inlet)

Question 6

How is the shape of the sacrum different in those with achondroplasia?

Answer 6

Horizontal in nature

Question 7

What changes are seen with the pedicles of those with achondroplasia?

Answer 7

Short pedicles with narrowed interpediculate distance (leading to narrow spinal canal)

Question 8

Scalloping of what margin of the vertebral body is seen in those with achondroplasia?

Answer 8

Posterior body margins

Question 9

Cleidocranial dysplasia is a defect of what kind of bone growth and therefore affects which bones?

Answer 9

Intramembranous (affects skull, clavicle)

Question 10

How are the skull and clavicle changed by cleidocranial dysplasia?

Answer 10

Skull = inverted "pear-shape"
Clavicle = hypoplasia or aplasia

Question 11

What causes Marfan’s syndrome?

Answer 11

Failure to produce normal collagen

Question 12

What are some imaging features of Marfan’s syndrome?

Answer 12

Scoliosis, acetabular protrusion, pectus excavatum

Question 13

Tall stature, arachnodactyly, heart valve defects, aortic aneurysm, and lens dislocation are all clinical features of what condition?

Answer 13

Marfan’s syndrome

Question 14

What structure is abnormal in those with osteogenesis imperfecta?

Answer 14

Type I collagen

Question 15

Blue sclera and abnormal dentition are associated with what condition?

Answer 15

Osteogenesis imperfecta

Question 16

What are the radiographic findings of osteogenesis imperfecta?

Answer 16

Osteopenia, bowed long bones, thin cortices, multiple fractures, kyphoscoliosis

Question 17

What is osteogenesis imperfecta usually confused with initially?

Answer 17

Child abuse (due to multiple fractures)

Question 18

Does osteopetrosis involve decreased osteoblast or osteoclast activity?

Answer 18

Osteoclast

Question 19

A “bone within a bone” or “endobone” is associated with what condition?

Answer 19

Osteopetrosis

Question 20

Sandwich vertebrae and Erlenmeyer flask deformity are associated with what condition?

Answer 20

Osteopetrosis

Question 21

In what two conditions do we see Rugger-Jersey spine?

Answer 21

HPT and osteopetrosis

Question 22

What is the hallmark feature of osteopetrosis upon X-ray?

Answer 22

Overall radiodensity (WHITE!)

Question 23

What is the most common form of osteopetrosis (also an AKA)?

Answer 23

Albers-Schoenberg Disease

Question 24

What is another name for osteopetrosis?

Answer 24

Marble Bone Disease

Question 25

What changes to the frontal sinuses are seen with osteopetrosis?

Answer 25

Hypoplasia

Question 26

“Bullet” vertebrae are associated with what condition?

Answer 26

Achondroplasia