PMC2248164_01
PMC2248164_02
Patient. Phenotypic characteristics of the patient at 20 months.
1471-2350-9-2-1.jpg
PMC2248164_02_1471-2350-9-2-1.jpg
F1
He displays dysmorphic features like hypertelorism, rocker bottom feet, broad nasal bridge, narrow upper lip and flat philtrum (Figure 1).