Congenital Disorders

Question 1

inheritance of duchennes

Answer 1

x-linked disorder

Question 2

who is affected by duchennes

Answer 2

only boys

Question 3

pathophysiology of duchennes

Answer 3

defect in dystrophin gene results in muscle weakness

Question 4

investigation of duchennes

Answer 4

raised CK
abnormalities on muscle biopsy

Question 5

management of duchennes

Answer 5

physio, splintage and deformity correction

Question 6

what is the result of connective tissue disorders

Answer 6

joint hypermobility

Question 7

what do connective tissue disorders affect

Answer 7

collagen synthesis

Question 8

inheritance in marfans

Answer 8

autosomal dominant

Question 9

what is Ehlers Danlos syndrome

Answer 9

autosomal dominant condition resulting in abnormal elastin and collagen formation

Question 10

name 2 MSK features of trisomy 21

Answer 10

short stature
joint laxity

Question 11

what is the medical term for short stature

Answer 11

skeletal dysplasia

Question 12

what is the most common type of skeletal dysplasia

Answer 12

achondroplasia

Question 13

what is another name of osteogenesis imperfecta

Answer 13

brittle bone disease

Question 14

what causes osteogenesis imperfecta

Answer 14

defect in the maturation and organisation of type 1 collagen

Question 15

clinical presentation of autosomal recessive osteogenesis imperfecta

Answer 15

fatal in the perinatal period or associated with spinal deformity

Question 16

clinical presentation of autosomal dominant osteogenesis imperfecta

Answer 16

multiple fragility fractures
short stature with multiple deformities
blue sclerae