Question 1What is shown in the picture above ?
Question 2
What other signs would you look for ?
Question 3
What would you ask in the history ?
Question 4
What is important in the family history ?
Question 5
What is the diagnostic criteria ?
Question 6
Which gene is responsible for this ?
3 comments:
multiple cutaneous neurofibromas and a cafe au lait spot
freckles, lisch nodules, optic glioma
hearing deficit, headache, vertigo, ataxia, seizures
parent(s), sibling(s) with similar signs and symptoms
cafe au lait, freckles, neurofibromas, optic glioma, lisch nodules, long bone abnormalities, 1st degree relative
NF1 gene
von Recklinghausen's
Cafe-au lait spots
Neurofibromata (single or plexiform)
Optic glioma
Crowe's sign
Sachari-Lisch nodules
etc.
NF1 (chromosome 17)
Can also be associated with Noonan's syndrome
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