It has recently been postulated that thrombophilia may have a role in the aetiology of Perthes’ disease. The published reports, however, remain conflicting. In this study a retrospective analysis of the coagulation parameters was made in 47 patients with Perthes’ disease and the results compared with the clinical data. Five patients with Factor V Leiden mutation were found (10.6%) and surprisingly four of them had a homozygous pattern. These four patients showed the most severe form of the disease, Catterall group IV, with flattening of the entire epiphysis, involvement of the metaphysis, shortening and broadening of the femoral neck, trochanteric overgrowth and developed mushroom-shaped aspherical laterally displaced femoral heads in dysplastic acetabula.

We would like to suggest that the homozygous form of Factor V Leiden mutation has some role in the clinical course of Perthes’ disease and particularly its most severe form.

We report the occurrence of spondylolysis and/or spondylolisthesis of the lumbar vertebrae in five patients with osteopetrosis, four of them having multiple lesions. The case histories indicate that spondylolysis had developed in the pathological bone as a result of increased stress and that it is an acquired lesion.