Metacarpophalangeal pattern profile analysis in Sotos syndrome: a follow-up report on 34 subjects

Abstract

Metacarpophalangeal pattern profile (MCPP) was determined on 34 Sotos syndrome individuals and compared with previous MCPP studies. The mean hand profile contained a major peak in the proximal phalangeal area and a smaller peak in the metacarpal area, while the distal hand bones were relatively short. There appear to be three recognized hand profiles in Sotos syndrome, which suggests heterogeneity of the syndrome, although correlation studies indicate clinical homogeneity of individuals in the younger age groups. Discriminant analysis of Sotos syndrome versus control subjects produced a function of two MCPP variables, plus age, which may be applied as another diagnostic tool.

Fig. 1

Mean MCPP for 34 individuals with Sotos syndrome. (★) indicates the bones that were selected in the discriminant analysis.

Fig. 2

Histogram depicting normal and Sotos syndrome classification by discriminant analysis. D = 0.40 + 1.13(X8) − 0.64(X9) −0.12 (age in years, with 18 as maximum in an adult).