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病例介绍患儿女性,3岁,因聋哑就诊。患儿生后对声响即无反应。一胎一产,足月顺产。周岁后稳坐,两岁半时起步,母孕期无病。双亲健康,远缘婚配。家族无类似患者。患儿呆滞,颈短,向右偏斜,双眼球外展麻痹,屈光不正。颈后有2×2厘米肉赘,随脉博而动,其周围有4×5厘米三角形骨性缺损区,柔软,不膨隆。双耳廓及外耳道正常,右耳屏前副耳,双鼓膜肥厚混浊,对音叉及背后击掌无反应,余无异常发现。X 线检查:环椎可见,枢椎齿突不清晰,2—6颈椎椎体融合。枕骨下部呈三角形缺损,尖端向上。胸椎右弯。左侧内耳骨性解剖结构混浊不清,右侧内耳前庭扩大,半规管短而钝,耳蜗近似空腔。
Case description Children with children, 3 years old, due to deaf attending. Children with no response to the sound after birth. One child a birth, full-term birth. Sit after the age of two, half and half started, no disease during pregnancy. Parents health, distant marriage. Family no similar patients. Children with sluggish, short neck, right deviation, bilateral eyeball paralysis, refractive errors. Neck 2 × 2 cm after the carious, with the pulse Bo moving around the 4 × 5 cm triangular bone defect area, soft, not bulging. Both ears and normal external auditory meatus, right ear before the ears, double tympanic membrane hypertrophy, no response to the tuning fork and the back clap, I found no abnormalities. X-ray examination: the ring can be seen, the axonal dentition is not clear, 2-6 cervical vertebral fusion. Occipital lower triangular defect, the tip up. Right thoracic curved. The anatomy of the left inner ear bony cloudy, right vestibular enlargement of the inner ear, semicircular canal short and dull, near the cavity of the cochlea.