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患者,女,30岁,因其生育一“痴呆”患儿,于1984年3月17日来本院就诊。患者父母非近亲婚配,双亲及弟妹表型正常。16岁月经来潮,月经周期正常,16 4—5/27—28。26岁结婚,性生活正常,28岁生一女婴,呈典型“先天愚型面容”。体检:身高153cm,体重45kg,智力正常,五官端正,耳位及发际正常,无颈蹼,胸廓无畸型,乳间距20cm,乳房稍小,如拳头大。无乳头,心界不扩大,三尖瓣区闻及Ⅲ级收缩期杂音,肝脾不肿大,阴、腋毛正常、外生殖器发育正常。
The patient, female, 30 years old, came to our hospital on March 17, 1984 for having a child with “dementia”. Patient’s non-relatives marriage, parents and siblings normal phenotype. 16-year-old menstrual cycle, normal menstrual cycle, 16 4-5 / 27-28.26-year-old married, normal sex life, a 28-year-old baby girl, was a typical “Down’s face.” Physical examination: height 153cm, weight 45kg, mental normal, facial features, ear and hair normal, no neck web, thoracic non-deformity, breast spacing 20cm, breast smaller, such as fist. No nipple, heart does not expand, tricuspid valve area and grade Ⅲ systolic murmur, liver and spleen is not enlarged, yin, armpit hair normal, external genitalia normal development.