患者男 7岁。出生时发育正常,以后发育逐渐迟缓,2岁始抬步,4岁始叫爹妈。行动蹒跚,时常跌倒。听力剧减,对外周音响无反应,吐字不清,浓稠鼻涕不断。视力一般,智力显著落后于同龄儿童。家族中父母健康,非近亲结婚;同胞中二姐一弟均健壮;无类似病人。 Patient male 7 years old. Birth at normal development, after the gradual development of slow, 2-year-old lift step, 4-year-old called father and mother. The action faltered and fell often. Hearing loss, no response to the peripheral audio, articulation unclear, continuous thickening of the nose. Visual acuity, mental retardation significantly behind children of the same age. Parents of healthy family, non-relatives get married; sisters in the second sister are robust; no similar patients.