一家族中两例晚发型脊椎—骨骺发育不良伴进行性关节病。本病系单基因常染色体隐性遗传性疾病。两例发病均在3至4岁左右。临床上呈短躯干型侏儒。四肢及手足关节呈进行性增大,活动受限。X线改变主要表现椎体普遍变扁,椎体前部上下缘凹陷,四肢及手足各骨端关节粗大伴关节病。文章讨论了有关疾病的鉴别诊断。 Two cases of late-onset spine-epiphyseal dysplasia with progressive arthropathy in one family. The disease is a single gene autosomal recessive genetic disease. The incidence of two cases were around 3 to 4 years old. Clinically short torso dwarf. Limbs and hands and feet joints were progressive increase, limited activities. X-ray changes mainly vertebral flattening flat, lower anterior vertebral edge sag, limbs and hands and feet of the bone and the joints with large joint disease. The article discusses the differential diagnosis of the disease.