Congenital Malformations In Chromosomal Abnormalities: Analysis of 18 Autopsy Cases

Abstract

To determine the structural anomalies associated in various chromosomal aberration syndromes we have analyzed postmorm findings of 18 autopsies with chromosomal anomalies that were collected during the last 14 years, 1975-1988. The diagnosis was confirmed by karyotyping in 14 cases and characteristic sets of anomalies in 4 cases. The cases consisted of 10 cases of Edwards syndrome, 5 cases of Down syndrome, 2 cases of Patau syndrome and one case of 4p-syndrome. Four cases were stillborns and 14 cases survived from a few hours to months. There were 3 males and 15 females. Cardiovascular malformations were common. They were patent ductus arteriosus, atrial septal defect and ventricular septal defect. They were particularly common in Down and Edwards syndrome. Among respiratory anomalies, abnormal lobation was common. Tracheo-esophageal fistula and lung hypoplasia were also seen in some cases. They were particularly common in Edwards syndrome. Gastrointestinal malformations were also frequently encountered in Edwards syndrome. They were diaphragmatic hernia, Meckel's diverticulum and mobile intestine. Genitoruinary malformation consisted of cystic dysplasia, horseshoe kidney and hypoplasia of gonads. These anomalies were also common in Edwards syndrome. Central nervous system anomalies were common in Patau syndrome. Holotelencephaly and microcephaly were common. Other skeletal and characteristic facial anomalies were also seen in these malformation sydrome. It was concluded that a fairly characteristic constellation of structural defects were associated with specific type of chromosomal abnormalities. Therefore these sets of findings could be applied as diagnostic criteria when chromosomal analysis is not available or fails.