Congenital Disorders

Question 1

type of collagen affected by osteogenesis imperfecta

Answer 1

type 1

Question 2

inheritance pattern in osteogenesis imperfecta

Answer 2

autosomal dominant

Question 3

osteopenia or sclerosis in osteogenesis imperfecta

Answer 3

osteopenia

Question 4

presentation of osteogenesis imperfecta

Answer 4

multiple fragility fractures, short stature, blue sclera, hearing loss, scoliosis

Question 5

investigation for osteogenesis imperfecta

Answer 5

dual energy RX absorption

Question 6

fracture healing in osteogenesis imperfecta

Answer 6

fractures heal with poor quality abundant callus

Question 7

term for dwarfism

Answer 7

skeletal dysplasia

Question 8

most common type of dwarfism

Answer 8

achondroplasia

Question 9

achondroplasia inheritance pattern

Answer 9

autosomal dominant

Question 10

presentation of achondroplasia

Answer 10

disproportionate limb: spine, prominent forehead, wide nose, lax joint, normal mental development

Question 11

protein mutated in marfan syndrome

Answer 11

fibrillin

Question 12

genetics of marfan syndrome

Answer 12

AD/sporadic fibrillin mutation

Question 13

when is surgery required for marfan syndrome

Answer 13

scoliosis, joint instability

Question 14

presentation of marfan syndrome

Answer 14

tall, disproportionate long limb, high arched palate, scoliosis, pectus excavatum, lens dislocation/retinal detachment, aortic aneurysm, mitral valve incompetence, pneumothorax, arachnodactyly

Question 15

name of common hypermobility

Answer 15

Generalised familial joint laxity

Question 16

Generalised familial joint laxity complications

Answer 16

more prone to soft tissue injury & recurrent dislocation esp. shoulder/patella

Question 17

Ehler’s danlos syndrome inheritance pattern

Answer 17

autosomal dominant

Question 18

Ehler’s danlos syndrome pathology

Answer 18

abnormal elastin/collagen formation, hypermobility, vascular fragility, scoliosis, joint instability

Question 19

presentation of down syndrome relevant to msk

Answer 19

short stature, joint laxity, recurrent patella dislocation, atlanto/axial instability

Question 20

gene mutated in duchenne muscular dystrophy

Answer 20

dystrophin gene (Ca transport)

Question 21

Gower’s sign

Answer 21

difficulty standing from lying down in duchenne muscular dystrophy

Question 22

blood test for duchenne muscular dystrophy

Answer 22

> serum creatinine phosphokinase

Question 23

when is surgery relevant for > serum creatinine phosphokinase

Answer 23

scioliosis

Question 24

less common kind of muscular dystrophy

Answer 24

becker’s

Question 25

what is syndactyly

Answer 25

2 digits fused

Question 26

what is polydactyly

Answer 26

extra digit

Question 27

what herniates in most severe form of spina bifida

Answer 27

cerebrospinal fluid, meninges & spinal cord/cauda equina

Question 28

causes of cerebral palsy

Answer 28

intrauterine infection, premature, haemorrhage, hypoxia, meningitis, labour problem

Question 29

some management options for cerebral palsy

Answer 29

botox, IM baclofen, PT, surgical release of joint contracture, tendon transfer

Question 30

name the two conditions of brachial plexus palsy

Answer 30

erb's dystonia, klumpke's palsy

Question 31

level of spinal cord affected by klumpe's palsy

Answer 31

C8 & T1

Question 32

level of spinal cord affected by erb's dystonia

Answer 32

C5 & C6

Question 33

which muscles lose innervation in erb's dystonia

Answer 33

deltoid, supraspinatus, biceps & brachialis

Question 34

management of erb's dystonia

Answer 34

with pt function normally restored

Question 35

cause of klumpke's palsy

Answer 35

forceful adduction

Question 36

klumpke's palsy pathology

Answer 36

intrinsic hand muscle paralysis +- finger/wrist flexor