Causes of death and autopsy findings in a large study cohort of individuals with Cornelia de Lange syndrome and review of the literature

Samantha A. Schrier, Ilana Sherer, Matthew A. Deardorff, Dinah Clark, Lynn Audette, Lynette Gillis, Antonie D. Kline, Linda Ernst, Kathleen Loomes, Ian D. Krantz*, Laird G. Jackson

*Corresponding author for this work

Research output: Contribution to journalArticle

43 Scopus citations

Abstract

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.

Original languageEnglish (US)
Pages (from-to)3007-3024
Number of pages18
JournalAmerican Journal of Medical Genetics, Part A
Volume155
Issue number12
DOIs
StatePublished - Dec 2011

Keywords

  • Autopsy
  • Brachmann de Lange syndrome
  • Causes of death
  • CdLS
  • Cornelia de Lange syndrome
  • Mortality

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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    Schrier, S. A., Sherer, I., Deardorff, M. A., Clark, D., Audette, L., Gillis, L., Kline, A. D., Ernst, L., Loomes, K., Krantz, I. D., & 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. American Journal of Medical Genetics, Part A, 155(12), 3007-3024. https://doi.org/10.1002/ajmg.a.34329