Neurofibromatosis Flashcards
1
Q
Café-au-lait spots
Axillary/groin freckles
Peripheral neurofibromas
Iris hamatomas (Lisch nodules)
Scoliosis
Pheochromocytomas
A
NF1
2
Q
Bilateral vestibular schwannomas
Multiple intracranial schwannomas, mengiomas and ependymomas
A
NF2
3
Q
NF1 chromosome abnormality
A
Mutation on chromosome 17
4
Q
NF2 chromosome abnormality
A
Mutation on chromosome 22
5
Q
Inheritance pattern
A
Autosomal dominant
6
Q
A
