Pearls – Facies

Infant with Down syndrome facies

Facies (faces that represent a signal) cannot be explained in words. Yes, we can see many normal and dysmorphic facial signs but that is not the whole answer. A child with Down syndrome (DS) may have few or many dysmorphic signs characteristic of such disorder but – many other individuals with Down syndrome have characteristic DS facies in the lack of such signs. The proof of the above point of view is that we can recognize 100’s of average individuals irrespective of dysmorphic signs – each individual has a unique face including, to some degree, “identical” monozygotic twins. In summary, our brain can compute “uniqueness” that our vocabulary cannot express – you must “see” to recognize and “I see” underscores the notion of “I understand”. (W. Wertelecki, MD).