Syndromes

Question 1

Li Fraumeni

Answer 1

P53 tumour suppressor gene mutation

Increased risk of brain, breast, BM (leuk), adrenal cortex ca, soft tissue sarcoma

Question 2

Rothmund-Thomson syndrome

Answer 2

Increased osteosarcoma risk
Hypodontia
Telengectasia, poikiloderma, increased pigment, cataract, corneal dystrophy, short stature, hypo plastic or absent thumbs or radii