CFC index for the diagnosis of cardiofaciocutaneous syndrome

CFC index for the diagnosis of cardiofaciocutaneous syndrome

Autor Kavamura, Maria Ines Autor UNIFESP Google Scholar
Peres, Clovis de Araujo Autor UNIFESP Google Scholar
Alchorne, Maurício Mota de Avelar Autor UNIFESP Google Scholar
Brunoni, Decio Autor UNIFESP Google Scholar
Instituição Universidade Federal de São Paulo (UNIFESP)
Resumo 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. (C) 2002 Wiley-Liss, Inc.
Palavra-chave multiple anomalies
cardiopathy
mental retardation
ectodermal abnormalities nosology
Noonan syndrome
Costello syndrome
Idioma Inglês
Data de publicação 2002-09-15
Publicado em American Journal of Medical Genetics. New York: Wiley-liss, v. 112, n. 1, p. 12-16, 2002.
ISSN 0148-7299 (Sherpa/Romeo, fator de impacto)
Publicador Wiley-Blackwell
Extensão 12-16
Fonte http://dx.doi.org/10.1002/ajmg.10681
Direito de acesso Acesso aberto Open Access
Tipo Artigo
Web of Science WOS:000177684000003
Endereço permanente http://repositorio.unifesp.br/handle/11600/26977

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