Case of the Month
Section Editor: Nicholas Stence, MD
Children's Hospital Colorado, Aurora, CO
August 2014
A 4-year-old boy, born of second-degree consanguineous marriage, presented with paucity of movements of left upper limb since aged 5 months. On examination there was spasticity, brisk deep tendon reflexes of left upper limb, dysmorphic facies, and mild intellectual disability.