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患者,男,15岁,达斡尔族新疆人,1983年9月来我院就诊。患儿近年来视力越来越差,尤其看远物比较困难并有夜盲。智力减退,学习不好,勉强上完小学。因身体肥胖,智力差,未继续升学。患儿为第4胎,足月顺产,有两姐一兄一弟一妹,除大姐患先天性心脏病(室间隔缺损)和三姐近视外,其余均健康,未发现有异常现象。患儿父母系姨表兄妹结婚,父于三年前患脑出血死亡,祖父母及外祖父母身体均正常,唯其二舅之子患有多趾症。体检:身高147cm,体重70kg(体重指数为33),血压110/80mmHg,体型肥胖,以面、腹、臀及大腿最明显。患者表情痴钝。无阴毛及腋毛,颅顶较平,
Patients, male, 15 years old, Daur Xinjiang people, came to our hospital in September 1983. In recent years, children’s visual acuity worse and worse, in particular, to see distant objects more difficult and night blindness. Mental retardation, poor learning, barely finish elementary school. Due to body fat, poor intelligence, did not continue their studies. Children with a fourth child, full-term spontaneous delivery, there are two sisters and a brother and a sister, except eldest sister suffering from congenital heart disease (VSD) and Third Sister myopia, the rest were healthy, no abnormalities were found. Children with parents aunt cousins married, the father died of cerebral hemorrhage three years ago, the grandparents and their mothers were normal, only the second uncle’s son suffering from polycythemia. Physical examination: height 147cm, weight 70kg (body mass index of 33), blood pressure 110 / 80mmHg, body fat, to the face, abdomen, buttocks and thighs most obvious. Patient dull. No pubic hair and armpit hair, flat top of the skull,