Human body shape measures can be more informative in studies of developmental abnormalities than distances between body landmarks. Such measures were obtained by an appropriate transformation of 34 distances between trunk/limbs and head/face landmarks in 43 men and 72 women with the Martin-Bell Syndrome (MBS), and in 99 and 103 normal men and women, respectively. The transformation of the original distances was performed by adjusting individual measures for an overall size measure using regression analysis. Thus obtained body shape variables were used in discriminant analysis in order to obtain unbiased classification probabilities of individuals having the MBS or being normal. The average percent correctly classified male and female individuals was high (93 and 87, respectively). Moreover, the body shape variables were used to obtain shape dimensions by means of principal component analysis. There was no difference between the MBS and normal individuals in the first (most important) principal component (shape dimension). This component represents the relative proportions between trunk and limb lengths and widths, or between midfacial lengths and widths. However, there were appreciable differences in some succeeding components. The problem of interpretation of shape dimensions as derived from principal component analysis and of their relevance to abnormal development in the MBS individuals is discussed.