Characterization of a 16-Year-Old Long-Time Survivor of Edwards Syndrome

Abstract

Edwards syndrome, or trisomy 18, is an uncommonly encountered aneuploidy in which multiple organs are affected and have compromised function. Only 13% of neonates born with Edwards syndrome survive beyond their first year of life. In this paper, we report the case of a 16-year-old girl with non-mosaic (with meiotic non-disjunction) Edwards syndrome who survived long beyond the expected life span of less than two years. She was diagnosed by karyotyping at the age of one month with complete trisomy 18. She had global developmental delay, a diaphragmatic hernia, recurrent chest infections, juvenile idiopathic scoliosis of the thoracolumbar region, neurogenic bladder, fecaloma, bilateral exposure keratopathy, and failure to thrive.