How to cite this article: Kline AD, Krantz ID, Sommer A, Kliewer M, Jackson LG, FitzPatrick DR, Levin AV, Selicorni A. 2007. Cornelia de Lange syndrome: Clinical review, diagnostic and scoring systems, and anticipatory guidance. Am J Med Genet Part A 143A:1287–1296.
Cornelia de Lange syndrome: Clinical review, diagnostic and scoring systems, and anticipatory guidance†
Article first published online: 16 MAY 2007
Copyright © 2007 Wiley-Liss, Inc.
American Journal of Medical Genetics Part A
Volume 143A, Issue 12, pages 1287–1296, 15 June 2007
How to Cite
Kline, A. D., Krantz, I. D., Sommer, A., Kliewer, M., Jackson, L. G., FitzPatrick, D. R., Levin, A. V. and Selicorni, A. (2007), Cornelia de Lange syndrome: Clinical review, diagnostic and scoring systems, and anticipatory guidance. Am. J. Med. Genet., 143A: 1287–1296. doi: 10.1002/ajmg.a.31757
- Issue published online: 21 MAY 2007
- Article first published online: 16 MAY 2007
- Manuscript Accepted: 18 FEB 2007
- Manuscript Received: 15 FEB 2007
- NOIH. Grant Number: RO1 HD039323
- NICHD. Grant Number: PO1 HD052860
- Brandan's Eye Research Fund
- Mariani Foundation
- Cornelia de Lange syndrome;
- anticipatory guidance;
- diagnostic criteria;
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. © 2007 Wiley-Liss, Inc.