例1、患儿男,6岁。因咳嗽20天,发热喘憋5天就诊。初诊肺炎。胸片示肺炎、石骨症,第一胎,第一产,母因骨盆狭窄难产。无骨折史。父母非近亲结婚。家系中无类似患者。查体:一般情况好,头颅无畸形,双肺闻及散在水泡音。肝肋下1.5cm,质软,脾未及。脊柱四肢无畸形。实验室检 Example 1, male child, 6 years old. 20 days due to cough, fever, wheezing 5 days treatment. Newly diagnosed pneumonia. Chest radiography showed pneumonia, osteosarcoma, the first child, the first birth, the mother because of pelvic stricture dystocia. No history of fracture. Parents marry non-relatives. No similar family in the patient. Physical examination: the general situation is good, no deformity of the skull, lungs smell scattered in the blisters. Liver ribs 1.5cm, soft, spleen and time. Spine limbs without deformity. Laboratory test