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患儿男,6岁,于92.12.1日来我科门诊以先天聋哑就诊. 父母非近亲结婚,无遗传性疾病,其外祖母系有蓝色巩膜,无耳聋及骨脆病史。患儿3岁时有骨小头脱臼史,父子染色体两次检查均无异常。听力检查:双耳鼓膜完整,标志清,双乳突许氏位片报告呈硬化型;声阻抗:鼓膜静态声哽值左耳:0.3ml,右耳:0.3ml;中耳压力:左耳:1dapa,右耳:3dapa;鼓室压力图呈A型;声反射测试:对侧和同侧刺激均未引出。血清检查:钙、磷和碱性磷酸酶正常;X线长骨拍片:透光度增加,骨骺略有变窄,无畸形。
Children aged 6, 92 years old, come to our clinics with idiopathic deaf-mutes at 92.12.1.The parents are non-relatives married and have no inherited diseases, and their grandmothers have a history of blue sclera, deafness and bone crisp. 3 years old children with bone dislocation history, both father and son chromosome examination no abnormalities. Hearing test: Eardrum intact, marked clear, duodenal Hsu’s radiograph report was sclerotic; acoustic impedance: eardrum static acuity value Left ear: 0.3ml, right ear: 0.3ml; Middle ear pressure: left ear: 1dapa, right ear: 3dapa; tympanogram showed A type; acoustic reflex test: Contralateral and ipsilateral stimulation were not induced. Serum examination: calcium, phosphorus and alkaline phosphatase normal; X-ray long bone film: increased transmittance, slightly narrow epiphyseal, no deformity.