Samantha A. Schrier and Ilana Sherer contributed equally to this study.
Article first published online: 8 NOV 2011
Copyright © 2011 Wiley Periodicals, Inc.
American Journal of Medical Genetics Part A
Volume 155, Issue 12, pages 3007–3024, December 2011
How to Cite
Schrier, S. A., Sherer, I., Deardorff, M. A., Clark, D., Audette, L., Gillis, L., Kline, A. D., Ernst, L., Loomes, K., Krantz, I. D. and Jackson, L. G. (2011), Causes of death and autopsy findings in a large study cohort of individuals with Cornelia de Lange syndrome and review of the literature. Am. J. Med. Genet., 155: 3007–3024. doi: 10.1002/ajmg.a.34329
How to Cite this Article: Schrier SA, Sherer I, Deardorff MA, Clark D, Audette L, Gillis L, Kline AD, Ernst L, Loomes K, Krantz ID, Jackson LG. 2011. Causes of death and autopsy findings in a large study cohort of individuals with Cornelia de Lange syndrome and review of the literature. Am J Med Genet Part A 155: 3007–3024.
- Issue published online: 21 NOV 2011
- Article first published online: 8 NOV 2011
- Manuscript Accepted: 5 SEP 2011
- Manuscript Received: 1 JUL 2011
- NIH grants. Grant Numbers: NIH/NICHD PO1HD052860, NIH/NICHD R21HD050538, NIH/NICHD K08HD055488, T32GM008638
- CHOP Institutional Development Funds
- Cornelia de Lange syndrome;
- Brachmann de Lange syndrome;
- causes of death;
To identify causes of death (COD) in propositi with Cornelia de Lange syndrome (CdLS) at various ages, and to develop guidelines to improve management and avoid morbidity and mortality, we retrospectively reviewed a total of 426 propositi with confirmed clinical diagnoses of CdLS in our database who died in a 41-year period between 1966 and 2007. Of these, 295 had an identifiable COD reported to us. Clinical, laboratory, and complete autopsy data were completed on 41, of which 38 were obtainable, an additional 19 had autopsies that only documented the COD, and 45 propositi had surgical, imaging, or terminal event clinical documentation of their COD. Proband ages ranged from fetuses (21–40 weeks gestation) to 61 years. A literature review was undertaken to identify all reported causes of death in CdLS individuals. In our cohort of 295 propositi with a known COD, respiratory causes including aspiration/reflux and pneumonias were the most common primary causes (31%), followed by gastrointestinal disease, including obstruction/volvulus (19%). Congenital anomalies accounted for 15% of deaths and included congenital diaphragmatic hernia and congenital heart defects. Acquired cardiac disease accounted for 3% of deaths. Neurological causes and accidents each accounted for 8%, sepsis for 4%, cancer for 2%, renal disease for 1.7%, and other causes, 9% of deaths. We also present 21 representative clinical cases for illustration. This comprehensive review has identified important etiologies contributing to the morbidity and mortality in this population that will provide for an improved understanding of clinical complications, and management for children and adults with CdLS. © 2011 Wiley Periodicals, Inc.