Snapshot A 6-year-old boy is brought to a new pediatrician for a routine check-up by his uncle. The child was separated from his mother soon after birth due to maternal substance abuse and subsequent incarceration. On physical examination, the child has poor muscle tone in the upper and lower extremities bilaterally and trouble balancing on 1 leg when prompted. The physician notices that the child has a small head size and characteristic facial features, as seen in the image. Introduction Overview login to view 5 more bullets Epidemiology login to view 6 more bullets Pathophysiology login to view 3 more bullets Presentation Symptoms login to view 3 more bullets Physical exam login to view 14 more bullets Studies Chromosomal analysis login to view 1 more bullet Fluorescent in situ hybridization (FISH) login to view 1 more bullet Differential 22q11 deletion login to view 2 more bullets Maternal phenylketonuria (PKU) login to view 2 more bullets Treatment Lifestyle login to view 1 more bullet