A methodology for establishing a diagnostic index for syndromes of unknown etiology
- 1 November 1976
- journal article
- research article
- Published by Wiley in Clinical Genetics
- Vol. 10 (5) , 249-259
- https://doi.org/10.1111/j.1399-0004.1976.tb00045.x
Abstract
A method was developed to test for heterogeneity in syndromes of unknown etiology and to distinguish between patients with and without the syndrome. The validity of the method was tested on a group of patients suspected of having a syndrome that can be diagnosed by other means (Down syndrome), and was effective. The method was then applied to a group of patients suspected of having a syndrome of unknown etiology (de Lange). The group appears to be heterogeneous. A preliminary diagnosis of having or not having the syndrome was made in about 80% of the patients.Keywords
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