The clinical features of a new patient with dysplasia epiphysialis multiplex are reported. Similar symptoms are present in four members of the family. This disease seems to be inherited as a simple dominant Mendelian trait. The disease mainly affects the epiphyses of the long bone and nearly always begins with pain in the hip-joint. Our patient presented radiological features of osteoporosis with calciotropic hormones within normal range and with a low trabecular bone volume. This histomorphometric bone study shows a low bone turnover osteoporosis, which suggests an altered trabecular development with a greater clinical expression in the epiphyses.
Adult Biopsy