例1,6岁,男孩,肥胖伴视力减退6年,生后4月开始肥胖,视力减退并进行性加重,畏光,父母姨表兄妹结婚,查体:身高125cm,体重47.5kg,智力较差,上部量75cm,下部量72.5cm,双眼球稍小,视力指动,阴茎呈幼稚型,左侧隐睾,眼科查视力光感,高度近视,视网膜发育不良,尿17-酮类固醇正常,临床诊断LMBS不完全型。 Example 1, 6 years old, boy, obesity with visual impairment 6 years, born after April began obesity, vision loss and progressive increase, photophobia, parents and aunts cousins ​​married, physical examination: height 125cm, weight 47.5kg, mental retardation , The upper amount of 75cm, the lower amount of 72.5cm, slightly smaller eyes, visual acuity, penile was naive, left cryptorchidism, ophthalmology check light perception, high myopia, retinal dysplasia, urinary 17-ketosteroid normal, clinical Diagnosis LMBS incomplete type.