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患儿 ,男 ,9岁 ,因听力障碍就诊。患儿系第一胎 ,足月顺产 ,生后体检正常 ,2岁后体态异常 ,容貌粗笨 ,智力发育迟缓 ,反应迟钝。双亲体健 ,表型正常 ,非近亲结婚。患儿无兄弟姐妹。体检 :身高 10 0 cm,体重 5 5 kg。颜面丑陋 ,前额低 ,眼距宽 ,眼内眦生赘皮 ,角膜混浊 ,眼底无
Children, male, 9 years old, due to hearing problems. Children with the first child, full-term follow-up, normal physical examination after birth, 2-year-old body abnormalities, looks stupid, mental retardation, unresponsive. Parental health, normal phenotype, non-relatives get married. Children without siblings. Physical examination: height 10 cm, weight 5 5 kg. Ugly face, low forehead, wide eyes, epicanthus epidermis, corneal opacity, fundus