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本文对软骨发育不全 10例确诊患者的临床表现及骨X线所见作了详细分析。结果表明每例均有侏儒及身体比例失调。骨X线均有四肢骨粗短弯曲、干骺端宽、骨皮质增厚 ,指趾短状骨粗短 ,2 / 3病例有额骨隆起 ,颅底短 ,方形髂骨翼 ,腰椎椎弓根间距变窄 ,坐骨大切迹变短且狭小等特点。而血钙、血磷、血钠、血钾、血镁、血锌及其他微量元素均正常 ,尿钙及尿磷也未发现异常。有遗传关系者 2例 ,父为典型病例 ,子现年 1岁半 ,已有四肢比例较短及骨的X线改变。
In this paper, a diagnosis of achondroplasia in 10 cases of patients with clinical manifestations and bone X-ray findings made a detailed analysis. The results show that each case has a dwarf and body imbalance. Bone X-ray limbs were all short and straight bend, metaphyseal wide, cortical thickening, short toe short stubby bone, 2/3 cases of frontal bone uplift, skull base short, square ilium wings, lumbar spine Narrow root spacing, sciatic big notch shorter and smaller features. The blood calcium, phosphorus, sodium, potassium, magnesium, zinc and other trace elements are normal, urinary calcium and urinary phosphorus were also found no abnormalities. There are 2 cases of genetic relationship, the father is a typical case, the child is 1 year and a half years old, has a short ratio of limbs and bone X-ray changes.