Cystic fibrosis and trisomy 21, two co-existing genetic syndromes in a newborn: a case report and a review of the literature

Abstract

A child presenting with the combination of two genetic syndromes, cystic fibrosis and trisomy 21, is rare. Here, we present a case report of a neonate with cystic fibrosis and trisomy 21 and the clinical implications during her course of life. We then review the literature in order to create awareness of co-existing syndromes, to optimize individual patient care, and to help clinicians guide parents in their counselling process.