A Case of Trisomy Syndrome

ABSTRACT

We have seen a case of Edward syndrome in a new born neonate who was born at local obstetrics clinics to a healthy 27 years old mother. Just after birth, she was transfered to us and brought to emergency room, because of dyspnea and abnormal apperance, characterized by prominent occiput low set malformed ear, micrognathia, webbed neck, short sternum, small hip and bilaterally abducted index and 3rd fingers flexed upon with semian lines. She also had small sized great toes with mild dorsiflex bilaterally. There was cardiomegaly as shown on chest AP and EKG, as well as a Grade III/IV systolic murmmer on auscultation. There was however, no specific bnormalities on IVP. Chromosomal studies showed the presence of third chromosome in No. 18 chromosome resulting in a total of 47 chromosomes for this patient. A review of literature is made briefly.