38.107.191.111
MedPix® Medical Image DatabaseDisease Topic 717
(Reviewed and Approved) :: Link to this Topic
Click Here for MedPix®-2
» » - - Print Topic - - « «
Contributor: James G. Smirniotopoulos, M.D. - Uniformed Services University
Scroll to Bottom to Display Images (if available)
More Like This ? Phakomatoses, Demographics
Factoid 717 - Created: 1999-09-05 08:13:56-04 - Modified: 2007-04-09 06:11:15-04
ACR Codes: 1.6
The Phakomatoses are a heterogeneous group of congenital (usually inherited) disorders characterized by involvement of the Central Nervous System. The birth incidence of the most "popular" Phakomatoses include:

Neurofibromatosis Type 1 (NF-1) 1/2,500-3,000:
• http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Search&db=PubMed&term=incidence+of+neurofibromatosis+1&tool=QuerySuggestion
• http://www.emedicine.com/oph/topic338.htm
• http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=10469435&dopt=Abstract

Neurofibromatosis Type 2 (NF-2) 1/25,000-50,000:
• http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=15699726&dopt=Abstract
• http://ghr.nlm.nih.gov/condition%3Dneurofibromatosistype2
• http://www.geneclinics.org/profiles/nf2/details.html


Tuberous Sclerosis Complex (TSC) 1/9,000-16,000:
• http://archneur.ama-assn.org/cgi/content/abstract/48/4/400
• http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191100
• http://jmg.bmj.com/cgi/content/abstract/28/6/395


von Hippel-Lindau Syndrome (VHL)1/36,000:
• http://www.emedicine.com/PED/topic2417.htm
• http://content.nejm.org/cgi/content/extract/330/15/1090-a
• http://www.patient.co.uk/showdoc/40001296/

Sturge-Weber Syndrome (SWS) 1/50,000:
• http://www.emedicine.com/neuro/topic356.htm
• http://www.sturge-weber.com/aboutsws.htm
• http://www.sturgeweber.org.uk/
Location:
Brain and Neuro 		Sublocation:
none selected 		Category:
Congenital, genetic
More Like This ? - Find Related Topics: Click on the Location, Sublocation, or Category Links Above
Send this Search to ... More Like This ?  - - CHORUS - - Google™
Prepared by: James G. Smirniotopoulos, M.D.
Affiliation: Uniformed Services University - || - Author Profile
Approved by: James G. Smirniotopoulos, M.D.
Affiliation: Uniformed Services University - || - Editor Profile
-


Use this MedPix® Visitor Feedback Form for Comments and Suggestions

MedPix® is sponsored by the Department of Radiology and Radiological Sciences, USUHS, Bethesda, MD
We do not accept paid advertisements.

This website is accredited by Health On the Net Foundation. Click to verify. We comply with the HONcode standard
for trustworthy health information:
verify here.

Text and Images may be Copyrighted © 1999 - 2009 by the Original Content Contributors.
Copyrighted materials are reproduced here with their Permission.
MedPix® is a Registered Trademark of USUHS :: The MedPix® Database Engine is Patented - USPTO No. 7,080,098
Portions of MedPix® are Copyright © 1999 - 2009 by J.G. Smirniotopoulos, M.D. & H. Irvine, M.D.
The MedPix® Classification Schema Copyright © 1999 - 2009 by J.G.Smirniotopoulos,M.D.
MedPix® has displayed more than   266,923,701   pages since 3 September 2000.
Database Successfully Disconnected