Paediatrics

Question 1

Cri du Chat syndrome

Answer 1

5p deletion syndrome, characterised by a mewling cry, low birth weight, hypotonia, and facial abnormalities

Question 2

Developmental dysplasia of the hip

Answer 2

socket of the hip is too shallow allowing femur to pop out. More common in breach babies

Treatment: harness or surgery

Question 3

Kawasaki disease

Answer 3

non-contagious flu-like condition mostly seen in under-5s. Always treated in hospital with aspirin and IV immunoglobulin.

Sx - fever, irritability, conjunctival redness, cracked lips, lymphadenopathy

Complications: coronary artery aneurysm

Question 4

Noonan Syndrome

Answer 4

Congenital disorder causing short stature, wide eyes, broad forehead and heart abnormalities

Question 5

Perthes Disease

Answer 5

presents in 3-11 yo, caused by temporary loss of blood supply to the round head of the femur resulting in osteonecrosis.
Sx - hip pain, inflammation, relief with rest, stiffness
Tx - immobilisation, surgery

Question 6

Pierre-Robin Syndrome

Answer 6

Congenital disorder resulting in underdeveloped jaw, upper airway obstruction, backward displacement of the tongue and often a cleft palate

Question 7

Slipped upper femoral epiphysis

Answer 7

usually develops in growth spurts in adolescents where the epiphysis slips down the neck of the femur at a growth plate

Question 8

Williams Syndrome

Answer 8

Congenital abnormality causing moderate intellectual disability, unique personality characteristics, distinctive facial features, and cardiovascular problems