Cornelia de Lange Syndrome Presenting with Nephrolithiasis and Urolithiasis

We describe a rare case of a viable preterm male infant with Cornelia de Lange syndrome presenting with elevated arterial blood pressures within the first several days of life. Renal ultrasonography revealed hydronephrosis, nephrolithiasis, and urolithiasis. Investigative kidney imaging may be indicated in patients with this syndrome.