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病例1:女,1岁7个月。病史:精神运动发育迟缓、痉挛。患儿因生后5个月颈不能动,曾在某医院诊断为脑性瘫痪。11个月出现无热性全身强直性痉挛。患儿双亲的祖父母系为再从姐弟结婚,双亲尚在。2个姐姐、一个哥哥健康,另一哥哥为病例2。母孕期正常,正常分娩。患儿生后哺乳力弱、哭声无力。查体:身长75cm,体重8,130克,头围43cm呈侏儒症。呼吸不正,大约20～30次/分。心、肺、腹
Case 1: Female, 1 year and 7 months. History: mental retardation, spasm. Children with neck after 5 months of life can not move, had a diagnosis of cerebral palsy in a hospital. Eleven months without thermoregulatory tonic spasms. Parents of children with grandparents marry again from siblings, parents still. 2 sisters, one brother healthy, another brother case 2. Normal pregnancy, normal childbirth. Children born after lactation weak, crying weakness. Physical examination: length 75cm, weight 8,130 grams, head circumference 43cm was dwarfism. Breathing is not correct, about 20 to 30 beats / min. Heart, lungs, belly