Piéron R, Mafart Y, Rybojad M, Noblinsky B, Dreyfus F
Sem Hop. 1982 Apr 29;58(17):1043-5.
Two cases of toxopachyosteosis involving the tibial and fibular diaphyses are reported. This rare condition, which is usually well tolerated, was first described by Weismann-Netter and Stuhl in 1954. This dysplasia affects both tibias and fibulas and usually results in symmetrical deformations. Characteristic features are anterior bowing of affected bones, with posterior thickening of the cortices. There are few clinical manifestations; small stature, often with delayed onset of walking. Biological investigations are negative. Roentgenograms often show embedding of the last lumbar vertebra with horizontalization of the sacrum. Scoliosis is a common finding.
报告了两例累及胫骨干和腓骨干的骨肥厚性骨炎病例。这种罕见的病症通常耐受性良好,于1954年由魏斯曼 - 内特尔和斯图尔首次描述。这种发育异常影响双侧胫骨和腓骨,通常导致对称性畸形。其特征性表现为受累骨骼向前弯曲,皮质后部增厚。临床表现较少;身材矮小,常伴有行走开始延迟。生物学检查结果为阴性。X线片常显示最后一个腰椎椎体嵌入,骶骨水平化。脊柱侧弯是常见表现。