Congenital bone dysplasias

Question 1

_____ is the most common cause of short limb dwarfism

Answer 1

Achondroplasia

Question 2

All bones are formed via endochondral ossification except what two bones

Answer 2

Skull

Clavical

Question 3

Symptom of achondroplasia resulting femurs and humeri to be shortened

Answer 3

Metaphyseal flaring (trumpet like appearance)

Question 4

Fibula head is at the same level as the tibia plateau

Answer 4

Long fibula

Question 5

T/F in achondroplasia the bones appear to be thinner

Answer 5

False- the bones appear thickened

Question 6

In achondroplasia the hand appear as ______

Answer 6

Trident hand

Question 7

What happens to the ilium in achondroplasia

Answer 7

Flaring of the iliac wings

Question 8

What happened to the pelvis in achondroplasia?

Answer 8

Champagne glass pelvis

Question 9

What happens to the pedicle relationships in achondroplasia

Answer 9

Narrowing of the interpedicular distance

Question 10

Narrow of interpedicular distance can contribute to what?

Answer 10

Spinal stenosis and neurological manifestations

Question 11

T/F Manipulation can help with narrowing of the foremen magnum

Answer 11

False- it is conraindicated

Question 12

Osteogenesis imperfect effects the formation of what type of colagen

Answer 12

Type 1 collagen

Question 13

osteoporosis and fragile bones that fracture easily also blue sclera, teeth fragility, and hearing loss.

Answer 13

Osteogenesis imperfecta

Question 14

Osteogenesis imperfecta type ___ lethal and many die in utero or right after birth

Answer 14

Oetogenesis imperfect Type II

Question 15

This type of osteogenesis imperfecta is progressively deforming

Answer 15

Type III osteogenesis imperfecta

Question 16

osterogenesis imperfecta a must be differentiated from ______ in children

Answer 16

Non-accidental trauma

Question 17

____ bones affected by bending bowing and fragility with fractures

Answer 17

Gracile thin bones

Question 18

Intra-sutural bones outside of the lambdoid suture

Answer 18

Multiple wormian bones

Question 19

how does osteogenesis imperfecta in the sclera

Answer 19

Blue Sclera

Question 20

____ is a connective tissue inherited disease causing defect in fibrillin 1 structural protein in collagen

Answer 20

Marfan Syndrome

Question 21

Marfan syndrome has a defect in what protien

Answer 21

Fibrillin 1

Question 22

What can happpen to the aorta with marfan syndrome

Answer 22

Cardiovascular disease due to aortic dilation and distension

Question 23

Patients are tall with disproportionate long extremities and have pectus excavatum, arachnodactyly, scoliosis, recurrent dislocations, high arched palate, protrusio acetabule and other skeletal and soft tissue abnormalities

Answer 23

Marfan Syndrome

Question 24

What does EDS stand for

Answer 24

Ehlers-Danlos Syndrome

Question 25

What are the major symptoms of Ehlers-Danlos Syndrome

Answer 25

skin hyperelasticity and fragility Joint hypermobility poor tissue healing blood vessel fragility

Question 26

A disorder that arises from defective osteoclasts

Answer 26

Osteopetrosis

Question 27

What happens to bones during osteopetrosis

Answer 27

bones become sclerotic and thick being weak and brittle

Question 28

How bones with osteopetrosis appear in x-rays

Answer 28

bone within a bone or Tubular bones (Erlenmeyer flask deformity) or dense bands around vertebral end-plates (sandwhich vertebrae)

Question 29

What might you observe in a patient with osteopetrosis

Answer 29

cranial nerve compression severe anemia and infection Liver and spleen enlargement multiple fractures

Question 30

How might Neurofibromatosis type 1 (von recklinghausen) appear radiologically

Answer 30

``` scoliosis ribbon ribs deformity, rib notching and dysplasia, tibial pseudoarthrosis, severe bowing of limbs both lateral and anterior ```

Question 31

If you see more than ___ cafe au lait spots in the axilla, this is a sign of NF type 1

Answer 31

more than 6 spots in the axilla