Childhood genetics

Question 1

Features of Patau Syndrome (5)

Answer 1

Microcephalic
Small eyes
Cleft lip/palate
Polydactyly
Scalp lesions

Question 2

Features of Edward’s syndrome (4)

Answer 2

Micrognathia
Low-set ears
Rocker bottom feet
Overlapping fingers

Question 3

Features of fragile X (5)

Answer 3

Learning difficulties
Macrocephaly
Long face
Large ears
Macro-orchidism

Question 4

Features of Noonan (4)

Answer 4

Webbed neck
Pectus excavatum
Short stature
Pulmonary stenosis

Question 5

Features of Pierre-robin (3)

Answer 5

Micrognathia
Posterior tongue displacement
Cleft palate

Question 6

Features of Prader-Willi (3)

Answer 6

Hypotonia
Hypogonadism
Obesity

Question 7

Features of William’s (5)

Answer 7

Short stature
Learning difficulties
Friendly/extrovert
Transient neonatal hypercalcemia
Supravalvular aortic stenosis

Question 8

Features of Cri du Chat (5)

Answer 8

Characteristic cry
Feeding difficulties/poor feeding
Learning difficulties
Microcephaly and micrognathism
Hypertelorism