Fryer A E, Holt P J, Hughes H E
Institute of Medical Genetics, University Hospital of Wales, Heath Park, Cardiff, U.K.
Am J Med Genet. 1991 Mar 15;38(4):548-51. doi: 10.1002/ajmg.1320380410.
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.
心脏-颜面-皮肤综合征（CFC）与努南综合征（NS）的区别一直基于特征性面容、毛发和皮肤异常以及散发性发病。然而，所有关于CFC综合征的报告都提到了它与NS的相似性，而且其散发性现在也存在争议。本报告展示了一名CFC综合征患者临床表型的演变，并促使我们质疑将CFC与NS区分开来的有效性。
