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患者李××,女,14岁,门诊号301975。自幼颈短,听力差。于1985年6月来我院门诊。家族史:其前两胎均因畸形而死亡;还有一姐和一弟,均健康。查体:智力发育稍差,身材矮小。头颅小,左侧面部高于右侧,后发际低。枕后正中有一约2.5×3cm 囊性肿物,质软,基底部可触之3×3cm 枕骨缺损。颈部短,且活动受限。胸锁乳突肌有僵硬感,活动不良,左肩高于右肩。双侧肩胛骨明显隆起。右耳鼓膜混浊,标志不清楚。左耳外耳道大量白色脓性分泌物,深处有胆脂瘤样物堆积,后上壁向下塌陷,瘘管试验(+)。听力检查:右耳气导听力丧失,骨导250～1000Hz 尚存;左耳混合
Patient Lee × ×, female, 14 years old, outpatient number 301,975. Young neck short, poor hearing. In June 1985 came to our hospital. Family history: the first two babies died due to deformity; and one sister and one younger brother were both healthy. Physical examination: mental development slightly worse, short stature. Skull is small, the left side of the face is higher than the right side, after the hairline is low. After the middle of the pillow there is a 2.5 × 3cm cystic mass, soft, basal part can touch the 3 × 3cm occipital defect. Short neck, and limited activity. Sternocleidomastoid stiffness, poor activity, left shoulder above the right shoulder. Bilateral shoulder blade obvious bulge. Right ear tympanic membrane cloudy, signs unclear. A large number of white purulent secretions of the left ear and external auditory meatus, there are accumulation of cholesteatoma samples in the depths, the upper wall collapsed downward, fistula test (+). Hearing tests: hearing loss of right ear auricle, bone conduction 250 ~ 1000Hz surviving; left ear mixed