CHORUS

Collaborative Hypertext of Radiology

Nervous system

About CHORUS
Disclaimer
Copyright

phakomatoses

• neurofibromatosis (von Recklinghausen)
• tuberous sclerosis (Bourneville)
• encephalo-trigeminal angiomatosis (Sturge-Weber-Dimitri)

• retino-cerebellar hemangioblastoma (von Hippel-Lindau)
• neurocutaneous melanosis
• ataxia-telangiectasia

all autosomal dominant except ataxia-telangiectasia
wide range of penetrance and expressivity
high rate of sporadic cases (spont. mutation)

Related CHORUS documents: tuberous sclerosis (Bourneville disease) von Hippel-Lindau syndrome adenoma sebaceum neurofibromatosis skin lesions of tuberous sclerosis renal adenocarcinoma

Copyright © 2013, Charles E. Kahn, Jr.