Publications identified in systematic review of published reports (1980–1997)
| Total No of publications identified through Medline | Publications relevant to clinical management development summary | Publications directly referenced in guideline | No of randomised controlled trials | |
| TS | 849 | 267 | 81 | 0 |
| Marfan syndrome | 2966 | 296 | 59 | 1 |
| MD | 1358 | 85 | 37 | 0 |
| NF1 | 949 | 179 | 38 | 0 |
| HD | 964 | 136 | 26 | 0 |
| Total | 7086 | 963 (14%) | 241 (3%) | 1 (0.01%) |
For details of the references in the guidelines development summary refer to http://www.medinfo.cam.ac.uk/phgu/info_database/care_pathways/care_pathways