A family of 114 people in six generations, of whom 45 were affected by multiple epiphysial dysplasia, was described in this Journal in May 1960. We have been able to review them again 23 years later, and also to report on the type and incidence of the disease in more children and in a further generation. The relative severity of the disease in different branches of the family has been unchanged through the generations. Patients who were previously hopelessly crippled can today be rehabilitated by total hip replacement. Genetic counselling and birth control have reduced the relative and absolute numbers of affected children; this is tending to make the disease self-limiting.
Blood types of patients admitted to the Hadassah University Hospital with ankylosing spondylitis did not differ significantly from the expected percentages among the Israeli population, except for a very high incidence (92% to 100%) of homozygous MM. Among healthy controls the incidence of homozygous MM was found to be in line with accepted values.
CT scans of 18 hips with typical congenital dislocation have been studied in 16 children. These show that the common position of dislocation is lateral, superior and slightly anterior, and that a "false acetabulum" can be distinguished even in young children. A defect in the posterior ischium causing distortion of the acetabulum was also present in most cases. The cartilage and the acetabular contents were well shown. Positions of reduction and the anteversion of the acetabulum and the femoral neck were studied. Hypotheses are presented on the mode of dislocation and on the cause of the pathological changes.
1. A family of six generations, consisting of 114 members affected by epiphysial dysplasia of the lower extremities, is described. 2. Twenty-two males and twenty-three females were affected, while thirty-two males and thirty females were unaffected. Seven members of the family could not be traced. 3. Variations from Fairbank's description of dysplasia epiphysialis multiplex are discussed. In the family here reported the lower limbs only were affected and the severity of the disease was very variable. 4. Long term follow-up studies are presented.
1 . Sloughing of homogenous skin grafts and clouding of corneal transplants have been shown to be due to antigen-antibody reaction; antigens A and B have been demonstrated in human epidermis and corneal tissue; and anti-red-cell agglutination has been observed in dogs after homogenous bone transplantation. Human bone was therefore examined in thirty-three experiments to determine the presence or absence of A and B antigens. 2. The bone was separated into hard cortical bone, hard washed cancellous bone and soft-tissue washings of bone. 3. Adsorption experiments showed that A and B antigens are absent from cortical bone. A and B antigens are present in cancellous bone.
