General

Question 1

Define chronological age

Answer 1

Age measured from date of birth

Question 2

What is and causes picture 12

Answer 2

Corneal arcus/arcus senilis: hyperlipidaemia

Question 3

Name 4 causes macroglossia

Answer 3

• Down syndrome
• hypothyroid
• Mucopolysaccharides
• wiedemann syndrome

Question 4

Name 2 general features Down’s syndrome

Answer 4

• Hypotonic (may cause difficulty feeding)
• hyperflexibility

Question 5

Name 8 head and neck features Down’s syndrome

Answer 5

• Oblique palpebral fissures ( upslanting eyes)
• epicanthic folds
• flat nasal bridge
• brachycephaly (flat occiput)
• dysplastic, low-set, small ears
• open mouth with protruding (macroglossia) or furrowed tongue
• high arched palate
• short neck with excessive skin at nape of neck

Question 6

Name 4 limb features Down’s syndrome

Answer 6

• Transverse palmar crease (simian crease)
• Short and incurved little finger (clinodactyly)
• brachydactyly
• sandal toe deformity

Question 7

Name 3 most common congenital heart defects in downs syndrome

Answer 7

From most to least common
- Complete atrioventricular septal defect
- Ventricular septal defect
- atrial septal defect

Question 8

Name 9 complications Down’s syndrome

Answer 8

Head and neck
- Learning disability
- Dementia
- recurrent otitis media → conductive hearing loss
- Visual problems: myopia, strabismus, cataracts
- Hypothyroidism
- Atlanto axial instability

Chest
- cardiac defects

• leukemia