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Flashcards in Weird Diseases Deck (26)
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1
Q

What is the most common congenital dwarfing skeletal dysplasia?

A

Achondroplasia

2
Q

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

A

Normal

3
Q

Which long bones are primarily affected by achondroplasia?

A

Rhizomelic (proximal)

4
Q

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

A

Trident hands

5
Q

What radiographic pelvic feature is associated with achondroplasia?

A

“Champagne glass” (narrow broad pelvic inlet)

6
Q

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

A

Horizontal in nature

7
Q

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

A

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

8
Q

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

A

Posterior body margins

9
Q

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

A

Intramembranous (affects skull, clavicle)

10
Q

How are the skull and clavicle changed by cleidocranial dysplasia?

A
Skull = inverted "pear-shape"
Clavicle = hypoplasia or aplasia
11
Q

What causes Marfan’s syndrome?

A

Failure to produce normal collagen

12
Q

What are some imaging features of Marfan’s syndrome?

A

Scoliosis, acetabular protrusion, pectus excavatum

13
Q

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

A

Marfan’s syndrome

14
Q

What structure is abnormal in those with osteogenesis imperfecta?

A

Type I collagen

15
Q

Blue sclera and abnormal dentition are associated with what condition?

A

Osteogenesis imperfecta

16
Q

What are the radiographic findings of osteogenesis imperfecta?

A

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

17
Q

What is osteogenesis imperfecta usually confused with initially?

A

Child abuse (due to multiple fractures)

18
Q

Does osteopetrosis involve decreased osteoblast or osteoclast activity?

A

Osteoclast

19
Q

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

A

Osteopetrosis

20
Q

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

A

Osteopetrosis

21
Q

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

A

HPT and osteopetrosis

22
Q

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

A

Overall radiodensity (WHITE!)

23
Q

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

A

Albers-Schoenberg Disease

24
Q

What is another name for osteopetrosis?

A

Marble Bone Disease

25
Q

What changes to the frontal sinuses are seen with osteopetrosis?

A

Hypoplasia

26
Q

“Bullet” vertebrae are associated with what condition?

A

Achondroplasia