Open AccessCFC index for the diagnosis of cardiofaciocutaneous syndrome
Author(s) -
Kavamura M.I.,
Peres C.A.,
Alchorne M.M.A.,
Brui D.
Publication year - 2002
Publication title -
american journal of medical genetics
Language(s) - English
Resource type - Journals
eISSN - 1096-8628
pISSN - 0148-7299
DOI - 10.1002/ajmg.10681
Subject(s) - pathognomonic , noonan syndrome , differential diagnosis , index case , costello syndrome , medicine , index (typography) , genetic diagnosis , pediatrics , pathology , genetics , biology , disease , computer science , gene , colorectal cancer , cancer , world wide web , kras
Abstract Controversy exists concerning the delineation of cardiofaciocutaneous syndrome (CFC). Many authors have attempted to establish syndrome traits for CFC, but to date none are pathognomonic or obligatory. We have created a clinical and objective method, called the CFC index, for CFC diagnosis. This method also differentiates CFC from Noonan syndrome and Costello syndrome, CFC's main differential diagnosis. We propose the use of the CFC index for the confirmation of CFC diagnosis and to differentiate CFC from other phenotypically similar genetic conditions, while molecular studies are still in progress. © 2002 Wiley‐Liss, Inc.