Mortality, pathological findings and causes of death in the de Lange syndrome

The mortality of 48 de Lange patients born 1917-82 was found slightly raised compared with the expected number of deaths, and the survival rates appeared to be lowered. No sex differences were observed. The causes of death and the pathological findings were evaluated in 11 patients. Pneumonia was the most frequent cause of death (6 patients). Congenital malformations seemed to be contributory causes of death in 5 patients, the most frequent being congenital heart disease and gastro-intestinal malformations. A wide variety of malformations were found but no consistent macroscopic or microscopic abnormalities could be demonstrated. An incidence figure of 1:50 000 was found for the years 1967-82.