Paediatrics

Question 1

Features of Patau Syndrome (trisomy 13)

Answer 1

Microcephalic, small eyes
cleft lip/palate
polydactyly
scalp lesions

Question 2

Features of Edward’s syndrome (trisomy 18)

Answer 2

micrognathia
low-set ears
rocker bottom feet
overlapping of fingers
90% die in utero, remainder die in first few years of life

Question 3

Features of Fragile X

Answer 3

Learning difficulties
Macrocephaly
Long face
Large ears
Macro-orchidism

Question 4

Features of Noonan syndrome

Answer 4

webbed neck
pectus excavatum
short stature
pulmonary stenosis

Question 5

Features of Pierre-Robin Syndrome

Answer 5

Micrognathia
posterior displacement of the tongue (risk of airway obstruction)
cleft palate

Question 6

Features of Prader-willi syndrome

Answer 6

hypotonia
hypogonadism
obesity

Question 7

Features of Cri du chat syndrome (chromosome 5p deletion)

Answer 7

Characteristic cry dye to larynx and neurological problems
feeding difficulties and poor weight gain
learning difficulties
microcephaly and micrognathism
hypertelorism

Question 8

Features of William’s syndrome

Answer 8

short stature
learning difficulties
friendly, extrovert personality
transient neonatal hypercalcemia
supravalvular aortic stenosis