Literature DB >> 2063896

The cardio-facio-cutaneous (CFC) syndrome and Noonan syndrome: are they the same?

A E Fryer1, P J Holt, H E Hughes.   

Abstract

The distinction between the cardio-facio-cutaneous syndrome (CFC) and the Noonan syndrome (NS) has been based on the presence of a characteristic facies, abnormal hair and skin, and sporadic occurrence. However, all reports of the CFC syndrome comment on the similarity between it and NS, and its sporadic nature is now debatable. This report demonstrates the evolution of the clinical phenotype in a patient with the CFC syndrome and prompts us to question the validity of separating CFC from NS.

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Year:  1991        PMID: 2063896     DOI: 10.1002/ajmg.1320380410

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN: 0148-7299


  9 in total

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Review 9.  Molecular screening strategies for NF1-like syndromes with café-au-lait macules (Review).

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  9 in total

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