The hand is a complex anatomical structure with the component bones susceptible to a combination of environmental and genetic factors that may affect the bone length and width. The alterations may involve a single bone or specific group of bones. The metacarpophalangeal pattern profile (MCPP) developed by Poznanski, Garn, and others (Poznanski et al. Birth Defects VIII (5): [125][126][127][128][129][130][131] 1972) is a graphic representation of the relative lengthening and shortening of the 19 tubular bones of the hand useful for diagnosis, comparison of dissimilar patients, and gene carrier detection. The profile hand bone measurements are derived from posteroanterior hand radiographs and are standardized for age and sex. Specific profiles have been developed for several syndromes. Therefore, MCPP analysis has developed from a method of describing changes in the hand to a technique useful in assigning a diagnosis to a specific syndrome and evaluation of skeletal development. The current status of MCPP analysis in clinical genetics, particularly with the Prader-Labhart-Willi and Sotos syndromes, is discussed.
KeywordsPrader-Labhart-Willi syndrome; Sotos syndrome; Discriminant analysis; Correlation studies Metacarpophalangeal pattern profile analysis (MCPP) is an application of an anthropometric technique that has been utilized increasingly in clinical genetics to evaluate individuals with a variety of congenital malformation syndromes. A number of biological anthropologists were instrumental in the development and application of this method (Garn et al., 1972). More recently a number of investigators have broadened the analysis of hand bone lengths by applying multivariate statistical methods in an effort to provide an additional diagnostic tool for certain disorders (Landry et al., 1979; Butler et al., 1982).The hand is a complex anatomical structure. There are 28 component bones susceptible to a combination of factors (e.g., environmental and genetic) that may alter length and width. The alterations may involve a single bone or specific group of bones in a digit (e.g., HoltOram syndrome) or within a row of bones such as the metacarpals (Proger et al., 1968;Poznanski et al., 1970). There are syndromes in which non-homologous segments of the hand are affected and others characterized by size reduction of a single segment such as the middle phalanx of the fifth digit (Garn et al., 1972).
HHS Public AccessInvestigators in the past have attempted to examine specific hand bones in syndromes, for example, Down syndrome and the "metacarpal sign" or gradient of metacarpal shortening in Turner syndrome described by Archibald et al. (1959). Ratios of length and width of major hand bones have also been examined in Marfan syndrome and other connective tissue disorders (Parish, 1967).These methods were helpful in certain conditions, but there was a need to describe the overall relationship of the hand bone lengths. Subtle changes may be detected by examining the overall relationship that may be overlooked in the ro...