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患儿,男,11个月。因双下肢乏力,不能站立3个月就诊。患儿系第1胎第1产,足月顾产,母乳喂养。父母非近亲结婚,母孕期未服任何药物。患儿生后8个月下肢肌肉无力,不能站立,曾疑佝偻病用钙剂及维生素D_3治疗,但病情未见好转。体检:智力正常,体重10kg,身长73cm,头围46cm,头颅无畸形,前囟0.5cm,乳牙4枚,心肺正常。上肢活动正常,双手能握物玩耍,但常有无意识震颤及抖动,能扶坐,双下肢肌力,肌张力明显减退,肌肉萎缩,感觉正常,膝、跟腱反射未引出。患儿仰卧时呈“蛙式’体位。右腕关节摄片示早期佝偻病,髋关节片正常。血
Children, male, 11 months. Due to weakness of both lower extremities, can not stand 3 months treatment. The first child of the first birth in children, full-term care, breastfeeding. Parents of non-relatives get married, pregnant mother did not take any medication. 8 months after birth, children with muscle weakness, can not stand, had suspected rickets with calcium and vitamin D_3 treatment, but the disease did not improve. Physical examination: normal intelligence, weight 10kg, length 73cm, head circumference 46cm, no head deformity, anterior fontanel 0.5cm, deciduous teeth 4, normal heart and lung. Normal upper limb activity, both hands can hold things to play, but often unconscious tremor and jitter can help sitting, lower extremity muscle strength, muscle tone decreased significantly, muscle atrophy, normal, knee, Achilles tendon reflex did not lead. Supine when the child was “frog-like.” Right wrist radiography showed early rickets, hip joint normal.