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劳-穆-比(Laurence-Moon-Biedl)三氏综合征为一较少见的先天性畸形伴常染色体隐性遗传性疾病。今报告一例如下; 李××,男性,12岁。于1980年9月16日来院就诊。患儿自幼肥胖,近7个月体重增加6公斤。每日进食量0.525-0.535公斤,饮水量1250毫升,排尿量约1300毫升。智力落后,反应迟钝,上学四年不会写、不识字,计算能力极差。听力下降,言语障碍,性格孤僻,从不玩耍及说笑。家长日渐发现其行走缓慢,步态不协调,不能辨认方向,并有严重夜盲症状。
Laurence-Moon-Biedl’s triplet syndrome is a rare congenital malformation associated with autosomal recessive disease. One example of this report is below; Li × ×, male, 12 years old. In September 16, 1980 to hospital. Childhood obesity, weight gain in the past 7 months, 6 kg. Daily consumption of 0.525-0.535 kg, drinking 1250 ml, urine output of about 1300 ml. Mental retardation, unresponsiveness, four years of school will not write, illiteracy, poor computing power. Hearing loss, speech impairment, eccentric character, never playing and joking. Parents are increasingly aware of their slow walk, uncoordinated gait, can not identify the direction, and severe night blindness symptoms.