A “CHAR” Ming syndrome: Heart, bone, and eye

Abstract

Heart diseases are common congenital anomalies, with a prevalence of 8–12 per 1000 live births. Several genetic syndromes are associated with specific cardiac anomalies and Char was the first to describe a syndrome associated with patent ductus arteriosus (PDA) and various features, including a short philtrum, duck bill lips, ptosis, low set ears, and short fifth digits in both hands and feet. Here, we report a case of a 20-year-old male who presented with the triad of char syndrome, that is, a PDA with a shunt reversal, facial dysmorphism, and skeletal abnormalities. Additionally, he had congenital deafness and both eyes iris coloboma, a rare association which has never been reported so far. Char syndrome is rare; only a few cases have been reported worldwide, and almost none from our region.