Spot Diagnoses

Question 1

Down’s Syndrome: examination

Answer 1

Low set ears
Elicanthic folds
Protruding tongue
Brushfield spots
Single palmar crease
Murmurs: ASD and MR

Question 2

Down’s Syndrome: genetics

Answer 2

Trisomy 21
Mosaicism

Question 3

Down’s Syndrome: associated conditions

Answer 3

Murmurs: ASD and MR
Acute leukaemia
Early Alzheimer’s Disease
Cataracts
Duodenal atresia
Atlantoaxial subluxation

Question 4

Acromegaly: examination

Answer 4

Prominent supraorbital ridges
Large lips and nose
Protruding lower jaw
Macroglossia
Large, sweaty hands
Skin tags
Glycosuria
Pituitary tumour:
- bitemporal hemianopia
- optic atrophy

Question 5

Acromegaly: complications

Answer 5

Diabetes
HTN
Carpal tunnel syndrome
Hypopituitarism
Spinal kyphosis
Arthropathy
Hepatosplenomegaly
Cardiomegaly
Acanthosis nigrans
Visual field defects

Question 6

Lupus pernio: examination

Answer 6

Telangiectasia
Red-blue plaque formation

Nose, cheeks, and ears

Question 7

Lupus pernio: association

Answer 7

Sarcoidosis

Question 8

Signs of sarcoidosis

Answer 8

Lupus pernio
Erythema nodosum
Parotid swelling
Sarcoid plaques
Scar infiltrations