The Clinical Delineation of Malformation Syndromes; Historical Prospective and Future Direction

摘要

Initiating a current dialogue on the delineation of malformation syndromes represents a timely and relevant discourse because of three recent landmarks. The first of these events-and likely the most important-is the 2007 Commentary by Hennekam [2007]. In this piece, Hennekam argues that once the "molecular era started," the delineation of a syndrome became more complicated. He underscored the fact that mutations of a single gene are now known to cause "various combinations of manifestations, which (before) we had delineated as the distinct" entities and this created new challenges. The problem became whether these various syndromes "should be kept separate or merged" into a single disorder. We will return to this dilemma below.