Dysplasia epiphysialis multiplex: a case report.
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.
D000328:Adult; D001706:Biopsy; D001842:Bone and Bones / Q000473:pathology; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D010009:Osteochondrodysplasias / Q000000981:diagnostic imaging / Q000235:genetics* / Q000473:pathology; D010024:Osteoporosis / Q000473:pathology; D010375:Pedigree; D011859:Radiography