Paediatrics

Question 1

Chromosomes in Patau’s vs Edwards

Answer 1

Patau’s - 13
Edward’s - 18

Question 2

Features of Patau’s syndrome

Answer 2

• Microcephalic
• Small eyes
• Cleft lip/palate
• Polydactylyl
• Scalp lesions

Question 3

Features of Edward’s syndrome

Answer 3

• Micrognathia
• Low-set ears
• Rocker bottom feet
• Overlapping of fingers

Question 4

Features of Fragile X

Answer 4

• Learning difficulties
• Macrocephaly
• Long face
• Large ears
• Macro-orchidism

Question 5

Features of Noonan syndrome

Answer 5

• Webbed neck
• Pectus excavatum
• Short stature
• Pulmonary stenosis

Question 6

Features of Pierre-Robin syndrome

Answer 6

• Micrognathia
• Posterior displacement of tongue
• Cleft palate

Question 7

Features of Prader-Willi syndrome

Answer 7

• Hypotonia
• Hypogonadism
• Obesity

Question 8

Features of William’s syndrome

Answer 8

• Short stature
• Learning difficulties
• Friendly, extroverted personality
• Transient neonatal hypercalcaemia
• Supravalvular aortic stenosis

Question 9

Features of Cri du Chat syndrome

Answer 9

• Characteristic cry due to larynx and neurological problems
• Feeding difficulties and poor weight gain
• Learning difficulties
• Microcephaly and micrognathism
• Hypertelorism

Question 10

Hearing test used in newborn screening programme

Answer 10

Otoacoustic emission test

Question 11

Hearing test used in newborns and infants

Answer 11

Auditory brainstem response test

Question 12

Hearing test used at 6-9 months

Answer 12

Distraction test

Question 13

Hearing test used at 18 months - 2.5 years

Answer 13

Recognition of simple objections, e.g. ‘where is the teddy’

Question 14

Hearing test used >2.5 years

Answer 14

• Performance testing
• Speech discrimination testsH

Question 15

Hearing test used >3 years

Answer 15

Pure tone audiometry

Question 16

Features of chondromalacia patallae

Answer 16

• Common in teenage girls
• Anterior knee pain on walking up and down stairs and rising from prolonged sitting

Question 17

Features of Osgood-Schlatter disease

Answer 17

• Seen in sporty teenagers
• Pain, tenderness, and swelling over tibial tubercle

Question 18

Features of osteochondritis dissecans

Answer 18

• Pain after exercise
• Intermittent swelling and locking

Question 19

Features of patellar subluxation

Answer 19

• Medial knee pain due to lateral subluxation of patella
• Knee may give way

Question 20

Features of patellar tendonitis

Answer 20

• More common in athletic teenage boys
• Chronic anterior knee pain that worsens after running
• Tender below patella on examination

Question 21

Features of DDH

Answer 21

• Barlow’s and Ortolani’s positive
• Unequal skin folds/leg lengths

Question 22

Features of transient synovitis

Answer 22

• 2-10 years old
• Acute hip pain associated with viral infection

Question 23

Features of Perthe’s disease

Answer 23

• 4-8 years old
• Hip pain developing over few weeks
• Limp
• Stiffness and reduced range of movement

10% cases bilateral

Question 24

XR changes in Perthe’s disease

Answer 24

Early changes - widening of joint space
Later changes - decreased femoral head size/flattening

Question 25

Features of SUFE

Answer 25

• 10-15 years
• More common in obese children and boys
• Knee or distal thigh pain
• Loss of internal rotation of leg in flexion
• May present following trauma or with chronic, persistent symptoms

20% cases bilateral

Question 26

Features of JIA

Answer 26

• Joint pain and swelling, usually medium sized joints e.g. knees, ankles, elbows
• Limp
• ANA may be positive

Question 27

Features of septic arthritis

Answer 27

• Acute hip pain
• Systemic upset, e.g. pyrexia
• Inability/severe limitation of affected joint