» Treatment Guidelines

Diagnosis and management of Cornelia de Lange Syndrome: first international consensus statement (Adapted for easy access and wider distribution).

Adapted from: Kline, A. D., Moss, J. F., Selicorni, A., Bisgaard, A., Deardorff, M. A., Gillett, P. M., Ishman, S. L., Kerr, L. M., Levin, A. V., Mulder, P. A., Ramos, F. J., Wierzba, J., Ajmone, P. F., Axtell, D., Blagowidow, N., Cereda, A., Costantino, A., Cormier-Daire, V., FitzPatrick, D., Grados, M., Groves, L., Guthrie, W., Huisman, S., Kaiser, F. J., Koekkoek, G., Levis, M., Mariani, M., McCleery, J. P., Menke, L. A., Metrena, A.,  O’Connor, J., Oliver, C.,  Pie, J., Piening, S., Potter, C. J.,  Quaglio, A. L., Redeker, E., Richman, D., Rigamonti, C., Shi, A., Tümer, Z., Van Balkom, I. D. C. and Hennekam, R. C. (2018). Diagnosis and management in Cornelia de Lange Syndrome: First international consensus statement. Nature Reviews Genetics, 19, 649-666.

The text of this document and figures 1, 2, 3, 4 and 5, tables 1 and 2, and box 1 are adapted from the original article.

Adaptation written by: Lauren Shelley, Rachel Royston, Chris Oliver, Tonie Kline, David Fitzpatrick, Bjorn Harris, Steve Knight, Alan Peaford, Jules Harris, David Axtell, Charlie Blockley, Sara Peaford and Natalie Blockley.

Work on the adaptation was funded by a grant from Cerebra to the University of Birmingham

Note: References to published papers will be indicated by (number), e.g. (1) or (2). The full reference for the paper can be found next to the corresponding number in the reference section at the end of the document.

A full PDF version of these guidelines can be downloaded here: Download Guidelines
Standalone links to the Emergency Care Card, Growth Charts and Skills Chart are here: Download ECC. Growth Charts. Skills Chart.
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