| Literature DB >> 2063896 |
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.Entities:
Mesh:
Year: 1991 PMID: 2063896 DOI: 10.1002/ajmg.1320380410
Source DB: PubMed Journal: Am J Med Genet ISSN: 0148-7299