Commentary: The second step in syndrome delineation: who belongs and who does not? Thoughts generated by the paper on Floating-Harbor syndrome by White and colleagues.

摘要

Those of us who evaluate patients with possible syndromes and developmental delay have likely had the experience of entering a clinic room and within seconds recognizing that the child in front of us has Williams syndrome. Likewise, we have experienced the situation where we are attending a presentation at a scientific meeting, and the speaker presents a patient with-let's say for discussion "Kabuki syndrome"-and we immediately exclaim to ourselves, "The child doesn't have it." So what are the central issues here? In these scenarios, we use facial gestalt, and are comfortable in positing (or refuting) the diagnosis without systematically recording the individual components of facial structure. Yet, we also-I am certain-recognize the limitations in reaching conclusions from the gestalt approach alone.