Inoue S, Tagawa H, Ninomiya S, Miyanaga Y
Nihon Seikeigeka Gakkai Zasshi. 1980 May;54(5):419-30.
Among patients who visited our hip clinic, eighteen patients from ten families were diagnosed as mild or atypical cases of spondyloepiphyseal dysplasia or multiple epiphyseal dysplasia. Clinical and X-ray examinations of these patients showed common characteristic features as follows. 1. They usually had short stature but were not dwarfs. Their facial features and body proportions did not suggest hereditary bone dysplasia. 2. Although the disease might be transmitted in an autosomal dominant manner, its occurrence among these families was found to be sporadic. 3. Symptoms of the hip joint mainly resulted from limited range of motion, coxalgia being usually less than expected from X-ray findings. 4. Joints were always affected bilaterally although the degree might be different on each side. 5. In the majority of the cases, the spine, shoulder (in 7 cases), knee (in 6 cases), elbow (in 3 cases), ankle, and wrist joint (in 2 cases) were also affected. 6. Characteristic X-ray findings of the hip joints were as follows. a) Coxa vara, flattening or rectanglar deformity of the femoral head and shortening of the femoral neck. b) The trabecular pattern of the femoral head was irregular and subchondral cysts were often observed. c) Joint space was relatively better restored than expected from the deformity and subchondral bony changes of the femoral head. Spondyloepiphyseal dysplasia and multiple epiphyseal dysplasia are genetic disorders of the epiphyseal and apophyseal cartilage. The hip joint is loading greater mechanical force than any other joint. In both spondyloepiphyseal dysplasia and multiple epiphyseal dysplasia, the hip joint is always affected. As the hip joint is most vulnerable when there is some disorder of the epiphyseal cartilage, it is probably the only detectable abnormal joint. In relatively short period (1972-1978), the diagnosis of mild or atypical spondyloepiphyseal dysplasia was made in 18 patients in our hip clinic. This means that the mild or atypical cases of spondyloepiphyseal dysplasia is not so rare as expected. They might be misdiagnosed as aseptic necrosis, deformity of the femoral head due to Perthes disease or primary osteoarthrosis. An extreme care should be taken when we examine such patients.
在前来我院髋关节门诊就诊的患者中，来自10个家庭的18例患者被诊断为轻度或非典型的脊椎骨骺发育不良或多发性骨骺发育不良。对这些患者进行的临床和X线检查显示出以下共同特征。1. 他们通常身材矮小，但并非侏儒。其面部特征和身体比例未提示遗传性骨发育不良。2. 尽管该疾病可能以常染色体显性方式遗传，但在这些家庭中的发病情况呈散发性。3. 髋关节症状主要源于活动范围受限，髋部疼痛通常比X线检查结果预期的要轻。4. 关节总是双侧受累，尽管两侧程度可能不同。5. 在大多数病例中，脊柱、肩部（7例）、膝部（6例）、肘部（3例）、踝关节和腕关节（2例）也受到影响。6. 髋关节的特征性X线表现如下。a) 髋内翻、股骨头扁平或呈矩形畸形以及股骨颈缩短。b) 股骨头的骨小梁模式不规则，常观察到软骨下囊肿。c) 关节间隙相对比根据股骨头畸形和软骨下骨质改变预期的恢复得更好。脊椎骨骺发育不良和多发性骨骺发育不良是骨骺和骨骺软骨的遗传性疾病。髋关节承受的机械力比其他任何关节都大。在脊椎骨骺发育不良和多发性骨骺发育不良中，髋关节总是受累。由于当骨骺软骨出现某种病变时髋关节最为脆弱，它可能是唯一可检测到异常的关节。在相对较短的时期（1972 - 1978年）内，我院髋关节门诊对18例患者做出了轻度或非典型脊椎骨骺发育不良的诊断。这意味着轻度或非典型的脊椎骨骺发育不良病例并不像预期的那么罕见。它们可能被误诊为无菌性坏死、佩特兹病导致的股骨头畸形或原发性骨关节炎。在检查此类患者时应格外小心。
