systemic- MNE Flashcards

1
Q

what is the MC congenital dwarfing skeletal dysplasia?

A

achondroplasia

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2
Q

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

A

achondroplasia

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3
Q

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

A

achondroplasia

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4
Q

“champagne glass” narrow broad pelvic inlet characteristic of?

A

achondroplasia

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5
Q

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

A
posterior body scalloping 
horizontal sacrum
narrow pedicle distance
platyspondylyl
"bullet" vertebrae
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6
Q

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

A

achondroplasia

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7
Q

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

A

macrocephaly
frontal bossing
foramen magnum stenosis
arnold-chiari malformations

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8
Q

what is a defect of intramembranous bone growth?

A

cleidocranial dysplasia

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9
Q

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

A

cleidocranial dysplasia

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10
Q

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

A

cleidocranial dysplasia

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11
Q

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

A

marfans

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12
Q

scoliosis, acetabular protrusion and pectus excavatum are seen with?

A

marfans

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13
Q

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

A

marfans

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14
Q

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

A

osteogenesis imperfecta

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15
Q

what are the 4 major clinical features of osteogenesis imperfecta?

A

skeletal fragility
blue sclera
abnormal dentition
premature sclerosis

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16
Q

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

A

osteogenesis imperfecta

17
Q

what is osteopetrosis?

A

group of sclerosing bone diseases- abnormality of decreased osteoclastic activity

18
Q

what are the 2 categories of osteopetrosis?

A

hereditary and familial

19
Q

what are imaging features of osteopetrosis?

A
medullary space loss
pathologic fractures
dense bone, thick cortices
hypoplasia of frontal sinuses 
bone within a bone
sandwich vertebra
erlenmeyer flask deformity
20
Q

what are 2 aka for osteopetrosis?

A

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

21
Q

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

A

sandwich vertebra are more dense with more defined borders

sandwich= osteopetrosis
rugger-jersey= hyperparathyroidism