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