Journal article
Cornelia de Lange syndrome: clinical review, diagnostic and scoring systems, and anticipatory guidance
American journal of medical genetics. Part A, v 143A(12), pp 1287-1296
15 Jun 2007
PMID: 17508425
Featured in Collection : UN Sustainable Development Goals @ Drexel
Abstract
Cornelia de Lange syndrome (CdLS), also known as Brachmann-de Lange syndrome, is a well-described multiple malformation syndrome typically involving proportionate small stature, developmental delay, specific facial features, major malformations (particularly the cardiac, gastrointestinal and musculoskeletal systems), and behavioral abnormalities. There is a broad spectrum of clinical involvement, with increasing recognition of a much milder phenotype than previously recognized. Significant progress has been made in recent years in the clinical and molecular delineation of CdLS, necessitating a revision of the diagnostic criteria, more inclusive of the milder cases. In addition, a scoring system of severity has been found to correlate with specific brain changes. Thus, a clinical overview and recommendations for anticipatory guidance are timely in aiding caretakers and professionals to individualize care decisions and maximize developmental potential for individuals with CdLS. These guidelines are derived from consensus based on collective experience of over 500 patients with CdLS, observations of the natural history in children, adolescents, and adults, a review of the literature, and contacts with national support organizations in North America and Europe.
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Details
- Title
- Cornelia de Lange syndrome: clinical review, diagnostic and scoring systems, and anticipatory guidance
- Creators
- Antonie D Kline - Greater Baltimore Medical CenterIan D Krantz - Children's Hospital of PhiladelphiaAnnemarie Sommer - Nationwide Children's HospitalMark Kliewer - University of Wisconsin–MadisonLaird G Jackson - Drexel UniversityDavid R FitzPatrick - Medical Research CouncilAlex V Levin - University of TorontoAngelo Selicorni - Clinical Genetics, Department of Pediatrics, Milan, Italy
- Publication Details
- American journal of medical genetics. Part A, v 143A(12), pp 1287-1296
- Publisher
- Wiley
- Grant note
- P01 HD052860 / NICHD NIH HHS MC_U127561093 / Medical Research Council R01 HD039323 / NICHD NIH HHS
- Resource Type
- Journal article
- Language
- English
- Web of Science ID
- WOS:000246955500006
- Scopus ID
- 2-s2.0-34249904394
- Other Identifier
- 991019350592104721
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- Collaboration types
- Domestic collaboration
- International collaboration
- Web of Science research areas
- Genetics & Heredity