CHRIST-SIEMENS-TOURAINE SYNDROME - CLINICAL AND GENETIC-ANALYSIS OF A LARGE BRAZILIAN KINDRED .1. AFFECTED FEMALES

A total of 27 women of a Brazilian kindred are described as having one or more signs of the Christ-Siemens-Touraine syndrome. The history and physical examination were supplemented by four sweat tests and dermatoglyphic analysis. It is suggested that this syndrome has two forms - a major form (in males) and a minor one (in females). Two signs verified in some of our patients (mosaic patchy distribution body hair and radial deviation of distal phalanges of index fingers) seem to be here described for the first time. A review of the literature shows a corrected sex ratio between 1M:1.21F and 1M:2.38F among affecteds. Since the manifestation rate of the gene among carriers was estimated at about 0.70, the actual sex ratio is expected to be not lower than 1M:1.40F. Contrary to a general opinion, affected females outnumber affected males.