A Case of Trisomy Syndrome

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.

Clinical and Statistical Study On the Congenital Anomalies of the Digestive System

This clinical and statistical obsrvation was made on 120 pediatric patients admitted to the Pediatric and Surgical Departments of Presbyterian Medical Center between Januarn, 1972 and July, 1979. A total of 120 cases were analyzed according to 1) distribution and incidence of the congenital anomalies of the G.I. tract; 2) age distribution according to onset of symptom and sign; 3) surgical treatment and mortality; and 4) associaties with gastrointestinal anomalies.The results were summerized as follwos: 1. In the sex ration to female was 3.6:1. 2. The order of frequency of diseases was as follows: congenial megacolon 37 cases(30.8%), anorectal malformation 26 cases(21.8%); congenital hypertrophic stenosis 21 cases(17.5%); congenital anomalies of hepatobiliary system 13 cases (10.8%); malroation 5 cases(4.1%); esophageal atresia 5 cases(4.1%); atresia of samll intestine 3 cases(2.5%); movable cecum 3 cases(2.5%); Meckel's diverticulum 2 cases(1.7%); diaphragmatic hernia 2 cases(1.7%); omphalocele 2 cases(1.7%); and, anular pancreas 1 cases(0.8%). 3. There was an over all mortality rate of 10 cases(11.2%). 4. Associated congenital anomalies were found in 24 cases(20%).