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患者,女,7岁.因身高体重增长缓慢6年入院.6年前患儿开始出现体重身高增长缓慢,前胸逐渐隆起.曾认为“缺钙”予药物治疗无效.5岁时开始出现走路不稳,不能耐受远距离行走.病人系第1胎第1产.足月顺产,出现体重4.25kg,3个月会抬头,5个月会翻身,1.5岁会走.父母为姨表亲结婚,其父亲身高160cm,母亲身高158cm,身体健康,一姐14岁,身高162cm,健康.查体:体重16kg,身高95cm.头颅无畸形,头围49.5cm,鼻梁略低,眼眶不宽,下颌偏小,无特殊粘多糖病面容.乳牙未全脱
Patients, female, 7 years old due to height and weight gain slowly 6 years admitted to hospital 6 years ago, children began to appear weight growth slow, the chest gradually bulge was considered “calcium deficiency” to drug treatment is invalid .5 years old began to appear to walk Unstable, can not tolerate long-distance walking.The patient is the first child of the first production.Full-term birth, weight 4.25kg, 3 months will rise, 5 months will stand up, 1.5 years will go.Parents aunt cousin married , His father’s height 160cm, the mother’s height 158cm, good health, a sister 14 years old, height 162cm, health checkup: weight 16kg, height 95cm head without deformity, head circumference 49.5cm, nose slightly lower, eyes wide, mandible Smaller, no special mucopolysaccharidosis