METACARPOPHALANGEAL PATTERN PROFILE ANALYSIS IN SOTOS AND MARFAN-SYNDROME

Patients with Sotos and Marfan syndrome have unusually long metacarpal s and phalanges which may make the differential diagnosis difficult in younger children. Using Q-scores, we compared metacarpophalangeal pat tern profile (MCPP) analysis in these two syndromes and identified dis tinct and different pattern profiles. This illustrates that the MCPPs are specific in these syndromes, even at an early age, and not related solely to the unusually long metacarpals and phalanges. For this stud y we used data from 50 Sotos patients (34 from the United Kingdom and 16 from the Netherlands, with a total of 95 hand films) and 36 Marfan patients (from the Netherlands, with 98 hand films). Of all patients o ver age 3 years the bone length (including the epiphysis) was determin ed. The patients under 71/2 years (29 Sotos and 12 Marfan) were also m easured without inclusion of the epiphysis. The patients measured with out epiphysis had a relative short metacarpal 1 (MC1) and long distal phalanx 1 (DPh1) in Sotos syndrome, and a relative long MC1 and short DPh1 in Marfan syndrome. Between age 3 and 71/2 years more than 90% of the films could be classified correctly using these two variables. Of the roentgenograms measured with epiphyses, about 80% were classified correctly. (C) 1994 Wiley-Liss, Inc.