Clinical anthropometry and medical genetics: a compilation of body measurements in genetic and congenital disorders

Abstract

Anthropometry has become an important tool in the study of genetic conditions, particularly as a diagnostic aid for the clinical geneticist. However, many practicing physicians do not do anthropometry of patients for several reasons, such as: appropriate measurements in a given situation are unknown; normative reference data are unavailable; or analysis and interpretation of the data are confusing. In this review we present an annotated compilation of informative measurements for hereditary and congenital disorders and a guide to normative anthropometric data of use in evaluation and diagnosis of such disorders. Further development of multivariate approaches will enhance the application of anthropometry as a means of identifying and classifying a syndrome and documenting the natural history of many disorders. Continued cooperation among physicians, geneticists, and anthropologists for the collection and assessment of patient and normative data is essential if these goals are to be realized.