Naveh Y, Kaftori J K, Alon U, Ben-David J, Berant M
Pediatrics. 1984 Sep;74(3):399-405.
Progressive diaphyseal dysplasia was found in a three-generation family including 13 affected individuals, the largest family reported to date. Our study confirms that progressive diaphyseal dysplasia, also known as Engelmann's or Camurati-Engelmann disease, is an autosomal dominant disorder with variable osseous and muscular manifestations. Disease distribution among patients, within a given patient, or even in individual bones is unpredictable. The femur is the most commonly and severely affected bone and hence most useful for radiographic screening of possible patients. Radiographs provide a meaningful assessment of disease activity and extent. The severity of symptoms is generally proportionate to severity of involvement shown by roentgenography. Exophthalmos due to osteosclerotic dysplasia of the skull occurred in more than half of the patients with progressive diaphyseal dysplasia. Twelve-year follow-up of this family, with affected individuals ranging in age from 6 months to 12 years, indicates that progressive diaphyseal dysplasia may progress or become quiescent and be remarkably inactive despite advanced osteosclerosis and structural deformity.
在一个三代家族中发现了进行性骨干发育异常，该家族中有13名患者，是迄今为止报道的最大的家族。我们的研究证实，进行性骨干发育异常，也称为恩格尔曼病或卡穆拉蒂 - 恩格尔曼病，是一种常染色体显性疾病，具有多种骨骼和肌肉表现。疾病在患者之间、同一患者体内甚至在个别骨骼中的分布都是不可预测的。股骨是最常且最严重受累的骨骼，因此对可能的患者进行X线筛查最为有用。X线片能对疾病活动度和范围进行有意义的评估。症状的严重程度通常与X线片所示的受累严重程度成正比。超过半数的进行性骨干发育异常患者出现了由于颅骨骨硬化发育异常导致的眼球突出。对这个家族进行了12年的随访，患者年龄从6个月到12岁不等，结果表明，尽管存在严重的骨硬化和结构畸形，进行性骨干发育异常仍可能进展或静止，且相当不活跃。
