Emanuel syndrome with unique cardiac defects: a case series

Emanuel syndrome is a rare condition resulting from the presence of an extra chromosome composed of pieces of chromosomes 11 and 22. The clinical presentation varies – the main features of the syndrome include cleft palate, ear anomalies, heart defects, genital anomalies, hypotonia and mental retardation. This report describes two cases of Emanuel syndrome in infants with antenatal diagnoses of congenital heart defects. Extra cardiac features in this case series include microcephaly, hypotonia, cleft palate and necrotising enterocolitis.