METACARPOPHALANGEAL PATTERN PROFILE IN MARFAN-SYNDROME AND MARFAN-LIKE PATIENTS

Marfan syndrome (MFS) is an autosomal dominant trait due to mutations in the fibrillin gene (FBN1). The MFS expressivity is variable, and it s diagnosis relies completely on clinical criteria, Atypical cases and Marfan-like (marfanoid) clinical presentations are commonly found, Th e metacarpophalangeal pattern profile (MCPP), a radiological method in which the 19 tubular hand bones are assessed, has been used in the di agnosis of various syndromes, To investigate whether the MCPP was adeq uate to discriminate between MFS and Marfan-like subjects, we studied 38 patients who were referred to our service because they had an MFS d iagnosis, diagnostic hypothesis, or differential diagnosis or had arac hnodactyly with dolichostenomelia, Two groups were formed: 1) MFS: 21 patients with a mean age of 18.3 (10.8 S.D.) years and 2) Marfan-like syndromes: 16 patients who did not meet the current criteria, with a m ean age of 14.6 (4.6 S.D.) years, The MCPP was performed in each case following the classical technique, and a characteristic mean profile w as obtained for group I (MFS), with Z scores ranging from 0.69 to 2.73 (1.80 +/- 0.50; mean +/- S.D.), Ingroup I, three cases had no correla tion with the typical MFS pattern, In group II, three cases had an MFS pattern, The correlation with the mean MCPP of MFS permitted the diff erential diagnosis of MFS and marfanoid syndromes with 86% sensitivity , 81% specificity, and 86% positive and 81% negative predictive values , The results suggest that MCPP can be used effectively as an auxiliar y tool in the nosology of these conditions and, because there is no ch ange in MCPP with age, can be helpful in early diagnosis. (C) 1997 Wil ey-Liss, Inc.