It has been shown that the phenotype of patients with a 17p13.3 microduplication involving YWHAE gene show autistic manifestation, behavioral symptoms, speech and motor delay, subtle dysmorphic facial features, and subtle hand-foot malformations (Bruno et al. 2010).
Other novel FASD diagnostic techniques include ways to identify potential at-risk individuals based upon subtle, subclinical facial features.
The patients with the monoallelic mutations showed much more severe eye abnormalities as well as defects in other systems such as skeletal dysplasia, macrocephaly, and learning disability, while others with a biallelic mutation had only a mild eye phenotype and subtle dysmorphic facial features.
Humans are able to distinguish subtle differences in facial features, but as the survival of the species is so important to us, big eyes and small noses send a clear signal to the brain.
Still, they provide preliminary evidence that this approach may constitute a means to identify at-risk individuals based upon subtle, sub-clinical facial features.
"The differences in femininity observed in this study were subtle, spread across many facial features, and apparent only when examining averaged images of many faces," the researchers wrote in the paper.
We looked for subtle, but possibly characteristic facial features in 12/14 subjects with interstitial duplication of 15q.
By subtle exaggeration of already distinctive facial features (arched eyebrows or sharp cheekbones for example) the researchers were able to increase the memorability of a face without drastically changing the individual's appearance.
If anything, his twists on faces feel empathetic, literally adding nuance to well-known visages with inflated facial features and subtle rainbow-tinted skin tones.
Keep in mind that most patients do not display all of them early in the disease course, and manifestations like coarse facial features may be very subtle (Fig. 2).
FXS presents a challenging clinical diagnosis based on the fact that the classic facial features of FXS are ambiguous until juvenile development, and that the cognitive presentation of FXS can be subtle in young children [ 11].
