Multiple epiphysial dysplasia in one family. A further review of seven generations

Abstract

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.