systemic- MNE

Question 1

what is the MC congenital dwarfing skeletal dysplasia?

Answer 1

achondroplasia

Question 2

normal or near normal trunk length with marked rhizomelic micromelia is seen with?

Answer 2

achondroplasia

Question 3

shortened long bones, protuberant abd, thoracolumbar kyphosis, rolling gait and trident hands are seen with?

Answer 3

achondroplasia

Question 4

“champagne glass” narrow broad pelvic inlet characteristic of?

Answer 4

achondroplasia

Question 5

what are some radiographic signs seen with achondroplasia in the spine?

Answer 5

posterior body scalloping 
horizontal sacrum
narrow pedicle distance
platyspondylyl
"bullet" vertebrae

Question 6

waddling gait and broad and flat nasal bridge are seen with?

Answer 6

achondroplasia

Question 7

what are some radiographic features of the skull seen in achondroplasia?

Answer 7

macrocephaly
frontal bossing
foramen magnum stenosis
arnold-chiari malformations

Question 8

what is a defect of intramembranous bone growth?

Answer 8

cleidocranial dysplasia

Question 9

inverted “pear shaped” skull, wormian bones, hypoplastic clavicles, pubic diastasis and midline defects are seen with?

Answer 9

cleidocranial dysplasia

Question 10

generalized dysplasia, short stature, large head and drooping shoulders are signs of?

Answer 10

cleidocranial dysplasia

Question 11

what is a collagen disorder that causes failure to produce normal collagen?

Answer 11

marfans

Question 12

scoliosis, acetabular protrusion and pectus excavatum are seen with?

Answer 12

marfans

Question 13

tall stature, acrodactyly, heart valve defects, aortic aneurysm and lens dislocation are all seen with?

Answer 13

marfans

Question 14

what is an inherited disorder marked by abnormal type 1 collagen formation?

Answer 14

osteogenesis imperfecta

Question 15

what are the 4 major clinical features of osteogenesis imperfecta?

Answer 15

skeletal fragility
blue sclera
abnormal dentition
premature sclerosis

Question 16

osteopenia, bowed long bones, thin cortices, multiple pathological fractures and kyphoscoliosis are seen with?

Answer 16

osteogenesis imperfecta

Question 17

what is osteopetrosis?

Answer 17

group of sclerosing bone diseases- abnormality of decreased osteoclastic activity

Question 18

what are the 2 categories of osteopetrosis?

Answer 18

hereditary and familial

Question 19

what are imaging features of osteopetrosis?

Answer 19

medullary space loss
pathologic fractures
dense bone, thick cortices
hypoplasia of frontal sinuses 
bone within a bone
sandwich vertebra
erlenmeyer flask deformity

Question 20

what are 2 aka for osteopetrosis?

Answer 20

brittle bone disease
albers-schoenberg disease- MC type II
marble bone

Question 21

how do you tell the difference btw rugger jersey and sandwich vertebra?

Answer 21

sandwich vertebra are more dense with more defined borders

sandwich= osteopetrosis
rugger-jersey= hyperparathyroidism