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Am J Med Genet A. 2007 Jun 15;143A(12):1287-96.

Cornelia de Lange syndrome: clinical review, diagnostic and scoring systems, and anticipatory guidance.

Author information

1
Harvey Institute for Human Genetics, Department of Pediatrics, Greater Baltimore Medical Center, Baltimore, Maryland 21204, USA. Akline@gbmc.org

Erratum in

  • Am J Med Genet A. 2008 Oct 15;146A(20):2713.

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.

PMID:
17508425
DOI:
10.1002/ajmg.a.31757
[Indexed for MEDLINE]

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