Marik Ivo, Marikova Olga, Zemkova Dana, Kuklik Miroslav, Kozlowski Kazimierz
Ambulant Centre for Defects of the Locomotor Apparatus, Prague, Czech Republic.
Skeletal Radiol. 2004 Mar;33(3):157-64. doi: 10.1007/s00256-003-0708-z. Epub 2004 Jan 17.
To present four related patients with progressive pseudorheumatoid dysplasia (PPsRD) each with distinctive history, unique phenotype and some peculiar radiographic findings.
The history was characterised by weather-dependent articular pain. The unique phenotypic features were hypoplasia/dysplasia of one or two toes. Peculiar radiographic findings were hypoplasia of the 3rd and 4th metatarsals, platyspondyly with rectangular shape of the lumbar spinal canal, progressive narrowing of the joint spaces and early synovial chondromatosis. Finally, the condition was inherited as a dominant trait. This constellation of abnormalities constitutes a distinct form of PPsRD. PPsRD must be differentiated from other bone dysplasias, specifically spondyloepiphyseal dysplasias, autosomal dominant spondylarthropathy, juvenile rheumatoid arthritis and osteoarthritis.
介绍4例患有进行性假类风湿性发育不良（PPsRD）的相关患者，每位患者都有独特的病史、独特的表型和一些特殊的影像学表现。
病史以天气相关的关节疼痛为特征。独特的表型特征是一两个脚趾发育不全/发育异常。特殊的影像学表现为第3和第4跖骨发育不全、腰椎椎管呈矩形的扁平椎、关节间隙逐渐变窄以及早期滑膜软骨瘤病。最后，该病以显性性状遗传。这种异常组合构成了一种独特形式的PPsRD。PPsRD必须与其他骨发育不良相鉴别，特别是脊椎骨骺发育不良、常染色体显性脊柱关节病、幼年类风湿性关节炎和骨关节炎。
