Congenital Conditions

Question 1

describe osteogenesis imperfecta (brittle bone disease)

Answer 1

detect of maturation and organisation of type 1 collagen, most AD

Question 2

what do the bones look like in osteogenesis imperfecta

Answer 2

thin with thin cortices and osteopenia

Question 3

what does osteogenesis imperfecta lead to?

Answer 3

multiple fractures which can be treated with splintage or surgical stabilisation

Question 4

define skeletal dysplasia (Dwarfism/short stature)

Answer 4

genetic condition with abnormal development of bone and connective tissue

Question 5

most common form of skeletal dysplasia

Answer 5

achondroplasia (AD)

Question 6

presentation of achondroplasia

Answer 6

shorter limbs
prominent forehead
widened nose
lax joints
mental development normal

Question 7

what are other skeletal dysplasias associated with?

Answer 7

learning difficulties

spine and limb deformities

Question 8

management of skeletal dysplasias

Answer 8

deformity correction and limb lengthening

growth hormone therapy

Question 9

define connective tissue disorders

Answer 9

disorders associated with collagen synthesis resulting in joint hypermobility

Question 10

what encompasses connective tissue disorders?

Answer 10

general (familial) joint laxity
Marfan’s syndrome
Ehlers-Danlos syndrome
Down’s syndrome

Question 11

describe general (familial) joint laxity

Answer 11

AD commonly known as being double-jointed

more prone to soft tissue injuries and recurrent dislocations

Question 12

describe Marfan’s syndrome

Answer 12

AD mutation of the fibrillin gene resulting in tall stature and disproportionality long limbs and ligamentous laxity

Question 13

describe Ehlers-Danlos syndrome

Answer 13

AD with abnormal elastin and collagen formation

Question 14

what does Ehlers-Danlos present with?

Answer 14

joint hypermobility, vascular fragility, joint instability and scoliosis

Question 15

management of Ehlers-Danlos

Answer 15

surgery may be required for dislocated joints, but bleeding is a problem

Question 16

describe Down’s syndrome

Answer 16

trisomy 21 with short stature and joint laxity- recurrent dislocations

Question 17

describe muscular dystrophies

Answer 17

X-linked recessive disorders (boys only) resulting in muscle weakness

Question 18

two examples of muscular dystrophies

Answer 18

• Duchenne muscular dystrophy

- Becker’s muscular dystrophy

Question 19

describe Duchenne’s muscular dystrophy

Answer 19

defect in dystrophin gene involving Ca2+ transport with muscle weakness
unable to walk and death in 20s due to cardiopulmoanry failure

Question 20

presentation fo Duchenne’s

Answer 20

weakness

Gower’s sign

Question 21

diagnosis of Duchenne’s

Answer 21

serum creatinine phosphokinase

muscle biopsy

Question 22

management of Duchennes

Answer 22

supportive e.g. wheelchair
physiotherapy
cardioprotective drugs (see BMJ)

Question 23

describe Becker’s muscular dystrophy

Answer 23

reduced walking and 30-40s premature death

Question 24

what do Beckers and Duchenne’s both present with?

Answer 24

swollen, woody calves

Question 25

myotonic dystrophy

Answer 25

hatchet-like face