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患儿男,6岁,足月顺产。于2岁学走路以后经常跌倒,双膝逐渐后屈,碰伤后皮肤易出瘀斑。4岁前按佝偻病治疗未愈。父母非近亲婚配。查体:头形稍大,眼距略增宽。肘部皮肤松软,双下肢可见数个蚕豆大瘀斑。双掌指关节背屈能接近腕部,双膝关节过度后屈。前臂毛细血管脆性试验阳性,出、凝血时间,血小板计数及血块收缩正常。染色体检查无异常。X线胸片与双手掌指骨摄片正常,左下肢股骨轻度脱钙。皮肤病理检查:真皮上下部弹力纤维增加,胶原纤维
Children male, 6 years old, full-term delivery. After 2 years of age to learn to walk often fall, knees gradually back flexion, skin bruises after bumps. 4 years old by rickets treatment healed. Parents non-relatives marriage. Physical examination: a little larger head shape, eyes widened slightly. Elbows soft skin, lower extremity visible several broad bean ecchymosis. Metacarpophalangeal joint dorsiflexion can approach the wrist, excessive knee flexion. Forearm capillary fragility test positive, out, clotting time, platelet count and clot normal. Chromosome examination without exception. X-ray and palmar phalanx radiography normal left femur mild decalcification. Skin pathology examination: Upper and lower dermis elastic fibers increase, collagen fibers