Paediatrics

Question 1

the medical term for brittle bone disease is

Answer 1

osteogenesis imperfecta

Question 2

what is osteogenesis imperfecta

Answer 2

a defect in maturation and organisation of Type 1 collagen

Question 3

the majority of osteogenesis imperfecta cases follow what pattern of inheritance

Answer 3

autosomal dominant, these are the less aggressive types

Question 4

what is skeletal dysplasia?

Answer 4

medical term for short stature (dwarfism)

Question 5

what is the most common form of skeletal dysplasia?

Answer 5

achondroplasia

Question 6

what pattern of inheritance does Marfans syndrome follow?

Answer 6

autosomal dominant

Question 7

describe duchenne muscular dystrophy

Answer 7

defect in the dystrophin gene which is involved in calcium transport

Question 8

how do we diagnose duchenne muscular dystrophy

Answer 8

raised serum creatinine and muscle biopsy

Question 9

timescale for child sitting alone/crawling

Answer 9

6-9 months

Question 10

timescale for child standing

Answer 10

8-12 months

Question 11

children should be walking by

Answer 11

14-17 months

Question 12

medical term for bow legs

Answer 12

genu varum

Question 13

medical term for knock knees

Answer 13

genu valgus

Question 14

what is transient synovitis

Answer 14

self-limiting inflammation of the synovium

Question 15

what is the most common cause of hip pain in childhood

Answer 15

transient synovitis

Question 16

what is usually the first clinical sign of Perthes disease

Answer 16

loss of internal rotation

Question 17

name an idiopathic osteochondritis of the femoral head, occurring between 4-9 yo

Answer 17

Perthes disease

Question 18

what is the medical name for clubfoot

Answer 18

talipes equinovarus

Question 19

what splintage technique is used with clubfoot

Answer 19

Ponseti technique

Question 20

what is spondylolisthesis

Answer 20

slippage of one vertebra over another, usually at L4/5 or L5/S1