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病例 患者,女,1岁零9个月。身长80cm,体重10kg,头围43cm。智力正常。皮肤苍白,蓝色巩膜,错咬(牙合),牙齿排列不齐,左上肢上举,外旋受限,右上肢弯曲畸形。X线示:肱骨、股骨、桡骨、锁骨多处骨折。骨皮质菲薄,长骨细长,干骺端膨大。血钙、磷正常,甲状旁腺素低于正常。双亲无异常表型,非近亲婚配,其母之舅、姨各一人于30多岁始发传导性耳聋致听力障碍。患者诊断为成骨发育不全症Ⅰ型伴甲状旁腺功能低下。
Case patients, female, 1 year and 9 months. Body length 80cm, weight 10kg, head circumference 43cm. Mental normal. Pale skin, blue sclera, bite (occlusion), missing teeth, left upper limb on the move, external rotation limited, right upper limb flexion deformity. X-ray showed: humerus, femur, radius, multiple fractures of the clavicle. Cortical meager, long slender, metaphyseal inflated. Calcium, phosphorus normal, parathyroid hormone is lower than normal. No abnormal phenotype of parents, non-relatives of marriage, his mother’s uncle, aunt in each of 30 years of onset of conductive deafness-induced hearing impairment. Patients diagnosed as osteogenesis imperfecta type Ⅰ with parathyroid dysfunction.