Families of 20 probands with atlanto-occipital fusion were studied, and the neurological complications in these patients described. In X-ray studies of 115 close relatives, 4 additional cases (3.5%) with the same anomaly were detected. In a comparison of adult patients with closely related age- and sex-matched controls, all anthropological measurements except length and breadth of the head tended to be smaller in the patients; for height, weight, leg and foot length, and the robusticity index, these differences were statistically significant.