RT Journal Article
SR Electronic
T1 A combinatorial method for grouping cases with multiple malformations.
JF Journal of Medical Genetics
JO J Med Genet
FD BMJ Publishing Group Ltd
SP 118
OP 121
DO 10.1136/jmg.25.2.118
VO 25
IS 2
A1 Winter, R M
A1 Clark, R D
A1 Ashley, K
A1 Gibbs, G
YR 1988
UL http://jmg.bmj.com/content/25/2/118.abstract
AB A combinatorial method is described for grouping cases with multiple malformations for the purpose of identifying previously undescribed syndromes. This method includes ways of carrying out 'tight' or 'loose' grouping, of allowing for variability of reporting of physical features by different observers, and of minimising the number of 'spurious' groups. Evaluation using a test data set of known dysmorphic syndromes showed that the method provides a feasible and useful means of grouping undiagnosed cases.