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

Abstract

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.

Transmissible and nontransmissible components of anthropometric variation in the Alexanderwohl Mennonites: II. Resolution by path analysis

“…With the appropriate familial data and a greater variety of measures, path analysis techniques can be used predictively in the context of the developmental mechanism suggested here. Moreover, when the pattern of transmission of anthropometric traits becomes more fully understood, the characteristic relationships between such traits and the single gene disorders, chromosomal abnormalities, and more complex syndromes reviewed by Ward and Meaney (1984) will become more valuable from both a diagnostic and a developmental perspective.…”

The developing role of anthropologists in medical genetics: Anthropometric assessment of the Prader‐Labhart‐Willi syndrome as an illustration

“…Medical genetics is a rapidly changing area of biomedical specialization to which both biologically and culturally oriented anthropologists can contribute. The relationship between medical genetics and physical anthropology has been explored in several recent reviews (Robinow 1982;O'Rourke and Petersen 1983;Ward and Meaney 1984). A potentially fruitful area for research by cultural anthropologists involves the problem of communication and the education process in genetic counseling, particularly when cross-cultural interaction is involved.…”

An anthropometric assessment of Huntington's disease patients and families

“…Ward and Meaney (1984) drew a parallel between the problems of classifying genetic syndromes with those faced by anthropologists who classify living and fossil populations. These authors examined the applicability of anthropometry and numerical taxonomy to two of the central problems in clinical genetics-namely, syndrome diagnosis and syndrome classification.…”