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先证者(Ⅲ_3),女,26岁,自幼反应迟钝,4岁后开始叫爸爸妈妈,5岁时还不能自理大小便,至今不能读书学习。步态向右侧跛行。现仅能做简单的家务劳动。无抽搐史。检查:身高139cm,体重35kg,头围53cm,眼距4cm,语音尖细,不会计数,不识人民币。视力正常,神经系统未见异常,跛行。下肢右侧比左侧短11cm,左右股骨及胫腓骨长度相等。X线片示;右侧髋臼扁平,股骨向上移位,股骨头颈部消失,大小粗隆均较小,骨质未见异常。智力测验(魏氏量表):智商小于23,属重度精神发育不全。EEG:中度异常,各导联稍多低-高幅三两成群4～7.5c/s的0节律及3～3.8c/s的δ波,以后导显著。染色体检查,核型分析未见异常。
The proband (Ⅲ_3), female, 26 years old, unresponsive since childhood, after the age of 4 began calling Mom and Dad, 5 years old can not take care of their own urine, so far can not study. Gait limp to the right. Now can only do simple housework. No history of convulsions. Check: height 139cm, weight 35kg, head circumference 53cm, eye from 4cm, sharp voice, do not count, do not know the RMB. Normal vision, no abnormalities in the nervous system, limp. Lower right than the left short 11cm, left femoral and tibiofibular length equal. X-ray showed; right acetabular flat, femoral upward shift, the disappearance of the femoral head and neck, the size of the small intestine are small, no abnormal bone. Intelligence test (Wei’s scale): IQ less than 23, is a severe mental retardation. EEG: Moderately abnormal, slightly more low in each lead - High-amplitude triad of 4 ~ 7.5c / s 0 rhythm and 3 ~ 3.8c / s δ-wave, leading to significant after. Chromosome examination, karyotype analysis showed no abnormalities.