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Bardlet-Biedl综合征(BBS)是具有肥胖、智力低下,视力差,多指(趾)畸形及性腺发育不良的先天性遗传性疾病。国内报道不多,现将我们收治的3例报告于后。临床资料例1,男,16岁,胖肥16年,视力差10年就诊。生后2月发胖,8个月时体重23kg。6岁前体重每年增长5kg。出生时四肢均为6指(趾)。父母非近亲婚配。其母及一舅父肥胖,但无其他异常,病儿兄为6指/趾,且肥胖,视力差。1岁时麻疹死亡。体检:身高166cm,体重80kg。肥胖,动作呆笨,满
Bardlet-Biedl’s syndrome (BBS) is a congenital hereditary disease with obesity, mental retardation, poor vision, multiple digit (deformity) and gonadal dysgenesis. Not many domestic reports, now we receive 3 cases reported later. Clinical data example 1, male, 16 years old, fat fat 16 years, poor eyesight 10 years treatment. 2 months after birth fat, 8 months weight 23kg. 6 years old before the weight gain 5kg. All limbs at birth are 6 fingers (toes). Parents non-relatives marriage. His mother and a uncle fat, but no other abnormalities, the sick child brother 6 fingers / toes, and obesity, poor eyesight. Measles died at 1 year of age. Physical examination: height 166cm, weight 80kg. Obesity, action stupid, full