title: Metacarpophalangeal pattern profile analysis in Williams syndrome.
abstract: Many patients with Williams syndrome (WS) are not diagnosed until they are old enough to demonstrate the characteristic personality and facial changes. A number of these changes are quite subtle and none of them is present in all affected individuals. The cause of WS remains obscure and consequently, there are no cytogenetic, biochemical, or molecular studies to help in the diagnosis of patients in whom the diagnosis is uncertain. We have generated a mean WS metacarpophalangeal pattern profile (MCPP) on 21 clinically diagnosed individuals with WS. This mean syndrome profile shows that WS hands are smaller than average age-matched control hands and that the distal phalanx of the thumb is disproportionately large with respect to the rest of the hand. A mathematical model, which effectively discriminates WS patients from unaffected control individuals, was developed using discriminant analysis of the MCPP data. Of the 21 WS patients classified by this method, only 2 were misclassified as "normal." Similarly, 2 of the 24 control individuals were misclassified as "WS," yielding an over-all successful classification rate of 91%.
authors.affiliation: University of Calgary Medical School, Alberta, Canada.
authors.forename: M A
authors.initials: MA
authors.lastname: Burns
authors.forename: D R
authors.initials: DR
authors.lastname: McLeod
authors.forename: L R
authors.initials: LR
authors.lastname: Linton
authors.forename: M G
authors.initials: MG
authors.lastname: Butler
mesh_terms: D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging* / Q000235:genetics; D000328:Adult; D001024:Aortic Valve Stenosis / Q000151:congenital / Q000235:genetics; D002648:Child; D002675:Child, Preschool; D016002:Discriminant Analysis; D005069:Evaluation Studies as Topic; D005260:Female; D006228:Hand Deformities, Congenital / Q000000981:diagnostic imaging* / Q000235:genetics; D006801:Humans; D008297:Male; D008663:Metacarpus / Q000002:abnormalities* / Q000000981:diagnostic imaging; D011859:Radiography; D013577:Syndrome