Commentary: Recognizing Syndromes With Overlapping Features: How Difficult Is It? Considerations Generated by the Article on Differential Diagnosis of Smith-Magenis Syndrome by Vieira and Colleagues

摘要

In my clinical research work, I have had the opportunity to study over 60 patients with the deletion 1p36 [Battaglia et al, 2008]. Based on this experience, I considered the facial features as distinct and characteristic, allowing for the clinical diagnosis of this newly recognized MCA/ID (intellectual disability) syndrome, even before laboratory confirmation. This was based on a number of features that altogether allowed for a prompt recognition of the syndrome. Such facial manifestations include: straight eyebrows, deep-set eyes, mid-face hypoplasia, broad nasal/root bridge, long philtrum, pointed chin, and facial hypotonia [Gajecka et al., 2007; Battaglia and Shaffer, 2008; Battaglia et al., 2008].