Paediatric syndromes and developmental milestones

Question 1

Patau syndrome

Answer 1

(trisomy 13)
2Ps 2Ss
Microcephalic, small eyes
Cleft lip/palate
Polydactyly
Scalp lesions

Polydactyly
Cleft palate
Small eyes
Scalp lesions

Question 2

Edward’s syndrome

Answer 2

Trisomy 18
Micrognathia
Low-set ears
Rocker bottom feet
Overlapping of fingers

Question 3

Fragile X syndrome

Answer 3

5 Ls
Learning difficulties
Large head (macrocephaly)
Long face
Large ears
Large testes (macroorchidism)

Question 4

Noonan syndrome

Answer 4

Win a PSP

Webbed neck
Pectus excavatum
Short stature
Pulmonary stenosis

Question 5

Pierre-Robin syndrome

Answer 5

Micrognathia
Posterior displacement of the tongue (may result in upper airway obstruction)
Cleft palate

Question 6

Prader-Willi syndrome

Answer 6

Hypotonia
Hypogonadism
Obesity

Question 7

William’s syndrome

Answer 7

SLAP

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

Question 8

Cri du chat syndrome (chromosome 5p deletion syndrome)

Answer 8

FML CH
Characteristic cry (hence the name) due to larynx and neurological problems
Feeding difficulties and poor weight gain
Learning difficulties
Microcephaly and micrognathism
Hypertelorism (an abnormally large distance between the eyes)

Question 9

Motor: 7-8 months

Answer 9

Sits without support

Question 10

Motor: 9 months

Answer 10

Crawls

Question 11

Motor: 13-15 months

Answer 11

Walks unsupported

Question 12

Motor: 2 years

Answer 12

Runs

Question 13

Motor: 4 years

Answer 13

Hops on one leg

Question 14

Verbal: double syllables

Answer 14

6 months

Question 15

Verbal: ‘mama’ and ‘dada’

Answer 15

9 months

Question 16

Verbal: responds to own name

Answer 16

12 months

Question 17

Verbal: combines 2 words

Answer 17

2 years

Question 18

Verbal: talks in short sentences

Answer 18

3 years

Question 19

Verbal: asks ‘why’ and ‘how’ questions

Answer 19

4 years

Question 20

Motor: copies a circle

Answer 20

3 years

Question 21

Motor: copies a cross

Answer 21

4 years

Question 22

Motor: copies a square and triangle

Answer 22

5 years

Question 23

Motor: tower of 2

Answer 23

15 months

Question 24

Motor: tower of 3

Answer 24

18 months

Question 25

Motor: tower of 6

Answer 25

2 years

Question 26

Motor: tower of 9

Answer 26

3 years

Question 27

Palmar grasp

Answer 27

6 months

Question 28

Points with finger

Answer 28

9 months

Question 29

Good pincer grip

Answer 29

12 months