Metacarpophalangeal Pattern Profile Analysis Research Articles

Metacarpophalangeal pattern profile analysis in diastrophic dysplasia.

We analyzed the metacarpophalangeal pattern profile (MCPP) on 16 individuals with diastrophic dysplasia and calculated a mean syndrome profile. Correlation studies confirm clinical homogeneity of the hand profile in diastrophic dysplasia. Discriminant analysis of individuals with diastrophic dysplasia compared with a sample of normal individuals produced a function of 3 MCPP variables plus age that appears to be a useful diagnostic tool.

Metacarpophalangeal pattern profile analysis in clinical genetics: an applied anthropometric method.

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): 125-131, 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.

Metacarpophalangeal pattern profile analysis in Prader-Willi syndrome. A follow-up report on 38 cases.

Metacarpophalangeal pattern profile (MCPP) was determined on 38 Prader-Willi syndrome individuals and compared with a previous report on 16 patients. Chromosome analysis showed an interstitial deletion of the long arm of chromosome 15 in 20 subjects and normal chromosome results in the remaining 18 individuals. The mean hand profile of 38 individuals was essentially flat while the profiles for the two groups based on chromosome findings were separate in the metacarpal area. Correlation studies confirmed the homogeneity of the deletion group relative to Prader-Willi syndrome individuals with normal chromosomes. Discriminant analysis of Prader-Willi syndrome versus control individuals produced a function of three MCPP variables plus age which may be applied as another diagnostic tool.

Anthropometry and numerical taxonomy in clinical genetics: an example of applied biological anthropology.

Biological anthropologists can contribute a unique perspective as well as technical expertise to the diagnosis and classification of genetic disorders. Anthropometry has been used with increasing frequency to characterize syndromes and to establish ranges of variation within syndromes. The specific anthropometric-radiologic technique of metacarpophalangeal pattern profile analysis has proven useful in discriminating individuals with the Prader-Labhart-Willi (PLW) syndrome from unaffected persons. Analysis of these data also indicate a negative correlation between age and Z-score transformations of individual hand bone lengths. These findings sound a cautionary note to clinical investigators who would use the Z-score transformation to standardize for age and sex. Problems encountered in the classification of genetic syndromes afford many parallels with those faced by anthropologists in the classification of living and fossil populations. The reliance on "key" traits and the necessity of focusing on pedigree analysis results in a deemphasis of the total range of variation and typological thinking. Application of numerical taxonomic techniques to the classification of the heterogeneous connective tissue disease osteogenesis imperfecta (OI) illustrates the heuristic value of this technique and points out the need to consider phenotypic overlap when defining typologies. Clinical genetics affords just one example of an area in medicine where the unique training and generalist perspective of the biological anthropologist is in demand. The decline in the availability of positions in the traditional academic habitat for biological anthropologists makes it imperative that graduate students be aware of alternatives and that they obtain training in the practical skills which such alternatives will demand.

Metacarpophalangeal pattern profiles in the evaluation of skeletal malformations.

Metacarpophalangeal pattern profile analysis is a graphic method of depicting lengthening and shortening of the tubular bones of the hand and their relationship to one another. The lengths of the tubular bones are plotted in terms of standard deviation units. These data are derived from simple measurements from hand radiographs and related to age and sex norms. Comparison of these patterns is a more sensitive index for detecting similarity of hand radiographs than is simple inspection of the radiograph. Since many congenital malformations have characteristic metacarpophalangeal pattern profiles, the method can be useful in the diagnosis and definition of these conditions.