Genetic Disorders: Toddler With Skeletal, Ocular, and Cardiac Anomalies
January 01, 2006
A 15-month-old girl presents for evaluation of macrocephaly and unusual facial features. Her prenatal and natal history are unremarkable. The child is now developing normally after mild gross motor delays during the first 6 months of life. Mild scoliosis was noted on a babygram taken at 8 months during an evaluation for possible nonaccidental trauma.