Severe neurodevelopmental phenotype, diagnostic, and treatment challenges in patients with SECISBP2 deficiency.

Purpose: Defects in the gene encoding selenocysteine insertion sequence binding protein 2, SECISBP2, result in global impaired selenoprotein synthesis manifesting a complex syndrome with characteristic serum thyroid function tests due to impaired thyroid hormone metabolism. Knowledge about this multisystemic defect remains limited.

Methods: Genetic and laboratory investigations were performed in affected members from 6 families presenting with short stature and failure to thrive.

[Eyes and gaze: Proverbs and expressions].

The eyes and the gaze participate in a major way in our non-verbal language, even before the verb appeared. From the Bible to contemporary language, through Greek mythology, theater, literature or spoken language, a multitude of expressions and proverbs present the eye, what it sees and what it symbolizes.