FigureĀ 3.

Dysmorphic features of the patient at 30-months-old, showing broad nasal bridge with orbital hypertelorism, epicanthus, short neck, rhizomelic shortening of proximal extremities, low-set thumb and overlapping toes.

Dysmorphic features of the patient at 30-months-old, showing broad nasal bridge with orbital hypertelorism, epicanthus, short neck, rhizomelic shortening of proximal extremities, low-set thumb and overlapping toes.