Leopard syndrome laboratory findings: Difference between revisions

	Leopard syndrome Microchapters
Home
Overview
Historical Perspective
Pathophysiology
Differentiating Leopard syndrome from other Diseases
Epidemiology and Demographics
Natural History, Complications and Prognosis
Diagnosis
History and Symptoms
Laboratory Findings
Imaging Findings
Treatment
Medical Therapy
Surgery
Primary Prevention
Secondary Prevention
Case Studies
Case #1
Leopard syndrome laboratory findings On the Web
Most recent articles
Most cited articles
Review articles
CME Programs
Powerpoint slides
Images
American Roentgen Ray Society Images of Leopard syndrome laboratory findings All Images X-rays Echo & Ultrasound CT Images MRI
Ongoing Trials at Clinical Trials.gov
US National Guidelines Clearinghouse
NICE Guidance
FDA on Leopard syndrome laboratory findings
CDC on Leopard syndrome laboratory findings
Leopard syndrome laboratory findings in the news
Blogs on Leopard syndrome laboratory findings
Directions to Hospitals Treating Leopard syndrome
Risk calculators and risk factors for Leopard syndrome laboratory findings

Revision as of 20:03, 6 September 2013

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Mohamed Moubarak, M.D. [2]

@@ Line 6: / Line 6: @@
 ==Laboratory Findings==
-Diagnosis of Leopard syndrome is sometimes difficult because of the overlap with [[Noonan syndrome]] and [[neurofibromatosis 1]].  In these patients, the presence of the disease can be confirmed with a mutation-based diagnosis, laboratory studies should include molecular analysis of the [[PTPN11]] and [[c-Raf|RAF1]] genes.  In a study of 10 infants with clinical indications of Leopard syndrome prior to their first birthday, 8 (80%) patients were confirmed to have the suspected mutation.  An additional patient, with the suspected mutation was subsequently found to have [[Neurofibromatosis type I|NF1]], following evaluation of the mother.<ref>{{cite journal |author=Digilio MC, Sarkozy A, de Zorzi A, ''et al'' |title=LEOPARD syndrome: clinical diagnosis in the first year of life |journal=Am. J. Med. Genet. A |volume=140 |issue=7 |pages=740–6 |year=2006 |pmid=16523510 |doi=10.1002/ajmg.a.31156}}</ref>
-There are 5 identified [[alleles|allelic]] [[Genetic diversity|variant]]s responsible for Leopard syndrome.  Which seems to be a unique familial mutation, in that all other variants are caused by transition errors, rather than [[transversion]].
 ==References==