MSK 3

Question 1

what is osteogenesis imperfect
majority that are ADom
AR

Answer 1

brittle bone disease. defect of maturation and organisation of type 1 collagen

multiple fragility fractures of childhood, short, blue sclera, loss of hearing

fatal in perinatal period or associated with spinal deformity

Question 2

osteogenesis imperfetta what are the bones like
mild type
treatment

Answer 2

thin (gracile) with thin cortices and osteopenia

relatively normal XR with history of low energy fractures

splint age, traction or surgical stabilisation
progressive deformity - multiple osteomies and intramedullary for correction (sofield procedure)

Question 3

what is skeletal dysplasia 
genetics 
what is it 
how many are there 
which is the commonest and assoc features

Answer 3

short <2nd gentile
genetic heriditaty/sporadic
abnormal development of bone and connective tissue. proportionate or disproportionate length of spine and limbs
>300 types. commonest type is achondroplasia
disproportionately short limbs with predominant forehead and wide nose. joints are lax and mental development normal

Question 4

other skeletal dysplasia are assoc with what
ix
treatment

Answer 4

LD, spine deformity, limb deformity, internal organ dysfunction, craniofacial abnormality, skin abnormality, tumour formation, joint hyper mobility, atlanta axial sublux, myelopathy, IUD

genetic testing of child and family

deformity correction including scoliosis, limb lengthening, GH therapy may be appropriate

Question 5

gen familial ligamentous laxity pop %
genetic
symp

Answer 5

50% have hypermobility
Dom inheritance
more prone to sofft tisue injuries (ankle sprain) and recurrent dislocation of joints

Question 6

Marfans genetic
symptoms/signs
what causes early death
treatment

Answer 6

ADom or sporadic mutation of fibrin gene

tall with disproportionately long limbs, ligamentous laxity, high arched palate, scoliosis, archonacdylt, pevux excavated, lens dislocation, retinal detachment, glaucoma, sponeqtous pneumothorax, aortic aneurysm, AR, MVP, MR

cardiac abnormalities

scoliosis correction, bony procedures for joint laxity example fusion

Question 7

Ehlos dances syndrome genetics and what is it 
types 
symptoms
trearment 
complication if surgery done

Answer 7

Adom
abnormal elastin and collagen formation
>10 types

profound joint hyper mobility, vascular fragility with ease of bruising, joint instability and scoliosis

boney surgery for dislocating joints
bleeding and skin healing is poor

Question 8

downs msk symptoms

Answer 8

short
joint laxity
atlanto-axial instability in C spine

Question 9

cerebral palsy causes 
spastic
ataxic
athetoid
monoplegic
diplegis
hemiplegic
total body involevemtn 
other features 
treatment

Answer 9

genetic, brain malfunction, intrauterine infection, prematurity, intracranial haemorrhage, hypoxia, meningitis

weakness and spascitiy
cerebellum
extrapyramidal motor system, pyramidal tract, BG
1 leg
both
one leg and one arm 
all 4 limbs
joint contractions, scoliosis, hip dislocation 

non surgical: physio and splint age, baclofen injected intrathecally into subarachnoid space, botox, orthotics
surgical: hip replacement, surgical release of contractions

Question 10

spina bifocal oculta
cytica and types
treatment

Answer 10

pes cavus and clawing of toes
dimple/tuft of hair in skin over defect

meningocele
myelomeningocele motor and sensory
hydrocephalus - shunt

scoliosis correction, reduction and containment procedures for hip

Question 11

polio is what 
where does the virus enter and initial symptoms 
resolvement of virus 
other symp
treatment

Answer 11

viral infection that affects motor anterior horn cells in spinal cord or basal ganglia - LMN

GI tract with flu like illness and variable degree of paralysis in one limb group of msuciesl within 2-3 days

some recover with weakness however some have residual paralysis

joint deformities, growth defects, shortening of limb, sensation preserved

treatment of residual paralysis - splint age, shoe raise for shortened limb,
tendon transfers, fusion

Question 12

syndactyl
polydactyl
tarsal coalition

Answer 12

failure of separation of skin/soft tissue. surgical separation at age 3-4

extra digit. remove

congenital fusion of C+W or T+C. painful flat foot in later childhood. surgical divide

Question 13

fibular hemimelia is what
symptoms
treatment for mild/severe

Answer 13

partial or complete absence of fibula
shortened limb, bowing of tibia, ankle deformity
mild: limb lengthening with a circular frame external fixation
severe: ankle amputation at 10m-2y with use of prosthetic blow knee limb

Question 14

absence/hypoplasia of radium

Answer 14

underdevelopment of hand - absent thumb
marked deformity - radical club hand

surgical reconstruction

Question 15

erBs palsy

klumpkes

Answer 15

c5 and c - waitress tip

c8 and t1

Question 16

DDH in who 
RF:
what happens if left untreated
ix
mild treatment:
severe:
persitant

Answer 16

girls in left hip l>r

FH, breech, first born, downs, presence of congenital disorders

shortened lower limb, arthritis

ortalani/barlow
USS. femoral head ossifies at 4-6m so no XR

observe

pelvic harness 6w full time 6w part time. can be used until 4-6m until hip stable

> 18m open reduction

Question 17

transient synovitis in who 
commonest what 
symp
ix
rx

Answer 17

self limiitng inflammation. 2-10 year old boys

hip pain in childhood

after URTI, limp/reluctance to bear to weight. decreased ROM

imaging to exclude perthes disease
CRP exclude septic arthritis
MRI for osteomyelitis

NSAIDs for pain

Question 18

perthes cause
what is it in who
symptoms

Answer 18

idiopathic. skeletal dsplasia/thrombophilia if bilateral

transient blood loss. active short boys 4-9yo

unilateral pain and limp, loss of internal rotation and then of abduction and later pos tredelenburg

Question 19

slipped upper femoral epiphyses symptoms and in who
ix
rx

Answer 19

overweight prepubertal boys. acute sudden onset pain and limp. pain in hip or in knee. loss of internal rotation of hip

lateral XR best

urgent surgery to pin femoral head

Question 20

extensor mechanism problem in who
tibial tubercle
inferior pole of patella
treatment

Answer 20

adolescents. pattelar tendonitis
osgood chatters
sinding larseon johansonn
self limiting physio rest

Question 21

meniscal problems some children have what
symp
rx

Answer 21

weird shaped
circular rather than C shaped
pain, popping
arthroscopic partial meniscectomy

Question 22

scoliosis is what
causes
if painful

Answer 22

lateral curvature of psine

idiopathic. NM disease, tumour, skeletal dysplasia, infection

MRI

Question 23

spondolythoesis is what 
where
who
cause
symp
treatment

Answer 23

slippage of one vertebra over another. L4/L5 or L5/S1
adolescent. development deficit or recurrent stress fractures
low back pain, may have radiculopathy, may have flat back

minor degree of slippage - rest and physio
severe - stabilise and possible reduction