Fig. 1: Clinical, neuroradiological and neurophysiological features of the patient.
From: Neonatal myoclonus in Bryant-Li-Bhoj syndrome associated with a novel H3F3A variant
a The facial features of the patient at 3 years and 6 months of age include hypertelorism, strabismus, a wide nasal bridge and a long philtrum. b, c Facial features of the patient at 18 years of age include hypertelorism, strabismus, a wide and depressed nasal bridge, and thick lips. d Brain magnetic resonance imaging at 18 years of age. T2-weighted axial images show normal findings. e Interictal electroencephalogram at 18 years of age showing spike waves in the bilateral frontal, central and parietal regions during sleep.
