Case presentation: 4 year-old male, diagnosed with Cornelia de Lange syndrome (CdLS). Born preterm at 35 weeks of gestation, the baby weighted 1670 kg and remained in ICU for 25 days. At 1 year age he presented a cephalic perimeter 44cm (microcephaly), horizontal nystagmus extreme lateral gaze, slow saccades, hypertonia hyperreflexia on all four limbs dysmorphic features (hypertelorism, wide no...