Diaphragmatic hernia in the south west of England

A retrospective anatomical, family, and epidemiological study was made of 143 patients (81 female and 62 male) with diaphragmatic hernia who were born in the south west of England between 1943 and 1974. There were 39 stillborn cases. A left sided diaphragmatic defect existed in 75% of patients; 22% had a right sided defect; and 3% had a bilateral defect. Other congenital malformations, most frequently of the nervous system, were seen in 50% of the patients. No maternal age or birth order effect was noted. Cases of diaphragmatic hernia without other malformations had in general a normal fetal growth rate. Eight percent of the cases were illegitimate. There were 2 pairs of twins discordant for diaphragmatic hernia, 1 pair being dizygotic and the other monozygotic. In no case of diaphragmatic hernia was there a relative affected with a diaphragmatic hernia. The most common type of diaphragmatic defect was a posterolateral hernia (92%), followed in frequency by an eventration of the diaphragm (5%), the least common defect being a retrocostosternal hernia (2%). Diaphragmatic hernia appears to be etiologically as well as anatomically heterogeneous. In this series there were 2 cases of trisomy 18, 1 case of trisomy 21, 1 case of trisomic for a small part of chromosome 20, and 2 cases with the Pierre Robin syndrome. It seems likely that diaphragmatic hernia is a nonspecific consequence of several teratologic processes.