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该综合征是以视网膜色素变性、肥胖、多指(趾)、智力发育不全、性腺发育不良为主要特征的疾病。但症状具全者罕见,早期病例或非典型者极易漏诊。荧光眼底血管造影对本病的诊断颇有助益,现将我们观察的两个完全型病例报告于下。例1 董某某,女,15岁,荧光造影号85051。以夜盲9年、昼盲4年来我院就诊。患者5岁始会行走,当时说话仅能发单音,因智力差不能上学读书。在家很少活动,月经尚未来潮,生后曾切除双足第6小趾。同胞3人,本人及其胞弟患病,父母体健,非近亲婚配。体查:面部表情呆滞,会说话,但不能正确回答自己的性别、年龄等简单提问。身高
The syndrome is a disease characterized by retinitis pigmentosa, obesity, multiple fingers, mental retardation and gonad dysplasia. However, the symptoms of all rare, early cases or atypical easily missed. Fluorescent fundus angiography is quite helpful in the diagnosis of this disease, and the two complete cases we observed are reported below. Example 1 Dong Moumou, female, 15 years old, fluorescent contrast number 85051. 9 years to blind the night, 4 days of blindness in our hospital. The patient starts walking when she is 5 years old and can only pronounce a single tone at that time, and can not attend school because of poor intelligence. Few activities at home, menstrual cramps have not yet, after birth, had removed the first 6 feet little toe. 3 sibs, I and their brother illness, parents healthy, non-relatives and marriage. Physical examination: facial expressions dull, can speak, but can not correctly answer their own gender, age and other simple questions. height