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Am J Med Genet. 2002 Sep 15;112(1):12-6.

CFC index for the diagnosis of cardiofaciocutaneous syndrome.

Author information

1
Centro de Genética Médica da Universidade Federal de São Paulo-Escola Paulista de Medicina, Brazil. kavamura@uol.com.br

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.

PMID:
12239713
DOI:
10.1002/ajmg.10681
[Indexed for MEDLINE]

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