Mortality, Pathological Findings and Causes of Death in the de Lange Syndrome

Abstract

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.

Social Anxiety in Cornelia de Lange Syndrome

“…Cornelia de Lange syndrome (CdLS) is a rare genetic syndrome with an estimated prevalence of 1:50,000 births (Beck, 1976;Beck & Fenger, 1985) and is caused by a deletions on chromosomes 5, 10 and X Krantz et al, 2004;Tonkin, Wang, Lisgo, Bamshad & Strachan, 2004;Musio et al, 2006;Deardorff et al, 2007).…”

Prenatal Diagnosis of a ‘Minor’ Form of Brachmann-de Lange Syndrome by Three-Dimensional Sonography and Three-Dimensional Computed Tomography

“…The estimated birth prevalence of the syndrome varies from 1/10,000 in the USA to 1/50,000 in Denmark [3,4].…”

Cornelia De Lange, Cri Du Chat, and Rubinstein-Taybi Syndromes

“…Beck (1976, investigating CdLS in a Danish population, found a prevalence rate of 0.5 per 100,000 with no gender differences, an estimate confirmed by Beck and Fenger (1985) for the years 1967-1982 that the findings are likely to demonstrate minimum figures due to problems associated with diagnosis and Opitz (1985) has proposed that a birth prevalence of approximately 1 per 10,000 is more accurate. With the identification of a more mild phenotype it is increasingly likely that the prevalence will be higher than 1 per 50,000.…”