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Journal article
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, v 155(12), pp 3007-3024
08 Nov 2011
PMID: 22069164
Featured in Collection : UN Sustainable Development Goals @ Drexel
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 1966–2007. 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 to 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.
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Details
- Title
- Causes of Death and Autopsy Findings in a Large Study Cohort of Individuals with Cornelia de Lange Syndrome and Review of the Literature
- Creators
- Samantha A. Schrier - Children's Hospital of PhiladelphiaIlana Sherer - University of PennsylvaniaMatthew A. Deardorff - University of PennsylvaniaDinah Clark - University of PennsylvaniaLynn Audette - Cornelia de Lange Syndrome FoundationLynette Gillis - Vanderbilt UniversityAntonie D. Kline - Institute of Human GeneticsLinda Ernst - University of PennsylvaniaKathy Loomes - Division of Genetics, The Children’s Hospital of Philadelphia, Philadelphia, PA University of Pennsylvania School of Medicine, Philadelphia, PA Cornelia de Lange Syndrome Foundation, Avon, Connecticut Division of Pediatric Gastroenterology, Vanderbilt University, Nashville, Tennessee Harvey Institute of Human Genetics, Baltimore, MD Department of Pathology, The Children’s Hospital of Philadelphia, Philadelphia, PA Division of Gastroenterology and Nutrition, The Children’s Hospital of Philadelphia, Philadelphia, PA Division of Obstetrics and Gynecology, Drexel University School of Medicine, Philadelphia, PAIan D. Krantz - University of PennsylvaniaLaird G. Jackson - Drexel University
- Publication Details
- American journal of medical genetics. Part A, v 155(12), pp 3007-3024
- Publisher
- Wiley
- Grant note
- P01 HD052860-03S1 || HD / National Institute of Child Health & Human Development : NICHD P01 HD052860-03 || HD / National Institute of Child Health & Human Development : NICHD
- Resource Type
- Journal article
- Language
- English
- Web of Science ID
- WOS:000297200300019
- Scopus ID
- 2-s2.0-81955161806
- Other Identifier
- 991019350593504721
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- Collaboration types
- Domestic collaboration
- Web of Science research areas
- Genetics & Heredity