Powerpoint BS

Question 1

MC congenital dwarfing skeletal dysplasia

Answer 1

Achondroplasia

Question 2

In achondroplasia, ______ accounts for major amount of shortenings

Answer 2

rhizomelic

Question 3

Features of Achondroplasia

Answer 3

shortened bones (especially proximal), thoracolumbar kyphosis, trident hands, failure of enchondral cartilage growth at physis, narrowing of spinal canal, small foramen magnum, symmetric shortening of long bones

Question 4

Rad features in pelvis-achondroplasia

Answer 4

narrow, broad pelvic inlet (champagne glass) broad ilia, ribs, sternum broad and short

Question 5

Rad features in extremities-achondroplasia

Answer 5

short, thick tubular bones metaphyseal cupping (splayed appearance)

Question 6

Rad features in spine-achondroplasia

Answer 6

posterior body scalloping, short pedicles with narrowed interpediculate distance leading to narrow/trefoil spinal canal, decreases caudally, rounded “Bullet” vertebrae, platyspondyly, horizontal sacrum

Question 7

Rad features in skull-achondoplasia

Answer 7

macrocephaly, frontal bossing, foramen magnum stenosis, associated w/ Arnold-Chiari malformation (herniation of cerebellar tonsils >4mm)

Question 8

Clinical features in achondroplasia

Answer 8

waddling gait, broad and flat nasal bridge

Question 9

defect of intramembranous bone growth generalized dysplasia, below avg ht, large head, drooping shoulders

Answer 9

cleidocranial dysplasia

Question 10

Imaging features of cleidocranial dysplasia

Answer 10

Pelvis: pubic diastasis skull: inverted “pear shape”, wormian bones clavicles: hypoplasia

Question 11

collagen disorder fails to produce normal collagen

Answer 11

Marfan’s syndrome

Question 12

Imaging features of Marfans

Answer 12

scoliosis, acetabular protrusion, pectus excavatum

Question 13

Clinical features of Marfans

Answer 13

tall stature, arachnodactyly, heart valve defects, aortic aneurysm, lens dislocation

Question 14

inherited disorder marked by abnormal type 1 collagen formation

Answer 14

osteogenesis imperfecta

Question 15

4 major clinical criteria for Osteogenesis Imperfecta

Answer 15

skeletal fragility, blue sclera, abnormal dentition, premature otosclerosis

Question 16

Imaging features of osteogenesis imperfecta

Answer 16

osteopenia, bowed long bones, thin cortices, multiple fractures (patho), kyphoscoliosis

Question 17

Clinical features of osteogenesis imperfecta

Answer 17

may be lethal at birth, confused w/ child abuse, treatment directed at limiting deformity and injury

Question 18

sclerosing bone disease, hereditary & familial, abnormality of decreased osteoclastic activity (chalk deformity)

Answer 18

Osteopetrosis

Question 19

“marble bone”

Answer 19

Osteopetrosis

Question 20

Loss of medullary space, patho fx, dense bones w/ thick cortices, hypoplasia of frontal sinuses, “endobone”, “sandwich” vertebrae, undertubulation of extremities resulting in an “erlenmeyer flask” deformity

Answer 20

Osteopetrosis

Question 21

Brittle Bone

Answer 21

Osteogenesis Imperfecta

Question 22

Hallmark for HPT

Answer 22

salt/pepper skull, lamina dura disappears, subperiosteal reabsorption, radial side of prox/distal middle phalanges

Question 23

Paint-brush, frayed, splayed, cupped

Answer 23

Rickets

Question 24

Albers-Schoenberg Disease

Answer 24

Osteopetrosis