No reason yet to change diagnostic criteria for Noonan, Costello and cardio-facio-cutaneous syndromes.

摘要

The clinicogenetic relationship between Noonan syndrome (NS) and Noonan-like syndromes (Costello syndrome (CS), cardio-facio-cutaneous (CPC syndrome) and the disruption of the RAS-ERK pathway makes for a fascinating story that has developed over the past decade, and is still developing. The discovery that the genes causing these syndromes encode proteins that converge on the same metabolic pathway facilitated understanding of the similarities that group these conditions within one family of syndromes.