Pediatrics

Question 0

Diastrophic dysplasia

Answer 0

Sulfate transporter gene, CMT, pmp22

Question 1

Achondroplasia associated genetic defects?

Answer 1

Fgfr3, hypophosphatemic rockets, Pex is genetic defect

Question 2

List four mucopolysaccharidosis?

Answer 2

Morquio, hunters, hurlers, san fillipo

Question 3

What is morquios syndrome?

Answer 3

MPS
Waddling gait, genuine valgum
Urinary excretion of keratan sulfate
C1-c2 instability caused by odontoid hypoplasia

Question 4

What’s beckwith-wiedemann?

Answer 4

Hemihypertrophy, spastic cp, predisposition to Wilms

Question 5

Rickets triad?

Answer 5

Bone pain, Varus deformities usually and short stature

Question 6

What is erb’s? Muscles, root?

Answer 6

Bpp, c5, c6 deltoid, cuff, elbow flexors, wrist and hand dorsiflexors waiters tip

Question 7

Total plexus palsy?

Answer 7

C5-t1 sensory and motor flaccid arm

Question 8

Klumpke palsy?

Answer 8

C8, t1 wrist flexors intrinsic muscles, Horner syndrome

Question 9

Cmt? Muscle balance?

Answer 9

Peroneus muscle atrophy!!

But weirdly often longus ok.

Lose peroneus Brevis, tib ant and then longus

So treatment relies on post tib transfer to dorsum of foot, fascial release, maybe pl to on transfer

Don’t forget the hammer toes! Jones procedure

Question 10

What neuromuscular conditions are concerning for scoliosis? 8

Answer 10

1. Fredric’s ataxia
2. Cp
3. Spinal muscle atrophy
4. Dmd
5. Arthrogryposis
6. Neurofibromatosis
7. Sbo
8. Traumatic paralysis