Neurofibromatosis 1+2 And Tuberous Sclerosis Flashcards
1
Q
Inheritance of NF 1+2
A
Autosomal dominant
2
Q
Inheritance of tuberous sclerosis
A
Autosomal dominant
3
Q
NF1 chromosome
A
17
4
Q
NF2 chromosome
A
22
5
Q
NF1 features (6)
A
Cafe au lait spots Axillary/groin freckles Peripheral neurofibromas Lisch nodules (iris hamatomas) Scoliosis Phaechromocytoma
6
Q
NF2 features (2)
A
Bilateral vestibular schwannomas
CNS tumours
7
Q
Tuberous sclerosis skin symptoms (5)
A
Ash leaf Shagreen patches Angiofibromas Subungal fibromata Cafe au lait spots
8
Q
Tuberous sclerosis neuro symptoms (3)
A
Developmental delay
Epilepsy
Intellectual impairment
