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先证者(Ⅲ_3),女,26岁。婚后3年不育就医。患者系第3胎、唇裂、从小智力低,生活尚能自理。言语层次不清,反应差。20岁月经初潮,规律。父母健康,非近亲婚配。孕期无毒物、放射线接触史。体检:身高133cm。体重42kg。痴呆面容。眼距宽、眼裂小、短颈、右手掌(?)线。心肺未见异常。外阴发育幼稚、阴道通畅,子宫颈小,子宫小如大指拇、活动好。附件(-)。
The proband (Ⅲ_3), female, 26 years old. 3 years after marriage infertility medical treatment. Patient is the third child, cleft lip, childhood intelligence, life still able to take care of themselves. The language level is unclear, the reaction is poor. 20 years of menarche, regularity. Parents health, non-relatives marriage. Non-toxic during pregnancy, radiation exposure history. Physical examination: height 133cm. Weight 42kg. Dementia face. Wide ocular distance, small eyelid, short neck, right palm (?) Line. Heart and lung no abnormalities. Vulvar development naive, vaginal patency, small cervix, small uterine thumb as thumb, good activity. annex(-).