title: A combinatorial method for grouping cases with multiple malformations.
abstract: 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.
authors.affiliation: Division of Inherited Metabolic Disease, Clinical Research Centre, Northwick Park Hospital, London.
authors.forename: R M
authors.initials: RM
authors.lastname: Winter
authors.forename: R D
authors.initials: RD
authors.lastname: Clark
authors.forename: K
authors.initials: K
authors.lastname: Ashley
authors.forename: G
authors.initials: G
authors.lastname: Gibbs
mesh_terms: D000015:Abnormalities, Multiple / Q000145:classification* / Q000175:diagnosis; D000465:Algorithms; D003627:Data Interpretation, Statistical; D003936:Diagnosis, Computer-Assisted / Q000379:methods*; D006801:Humans; D009716:Numerical Analysis, Computer-Assisted; D010363:Pattern Recognition, Automated; D013577:Syndrome