病史摘要例1,女,8 6/12岁。湖南常宁籍。1岁起胸骨前突,身材矮小,多个关节变粗大。步态摇摆,视力、听力渐减退。父母非近亲结婚。患儿系第6胎第6产,体检:发育差,身高86cm,上部量46cm智力尚可。双角膜混浊,鼻梁塌,眼距宽,听力减退,唇厚,常张口,伴伸舌。牙排列稀疏、不规则,增殖体稍大。 Case history summary 1, female, 8 6/12 years old. Hunan Changning Ji. 1 year old sternal protrusion, short stature, multiple joints become thick. Gait swing, vision, hearing loss receding. Parents marry non-relatives. The sixth line of children with the sixth birth, physical examination: poor development, height 86cm, the upper amount of 46cm intelligence is acceptable. Double corneal opacity, collapse of the nose, wide ocular, hearing loss, lip thick, often mouth, with the extended tongue. Tooth arrangement sparse, irregular, slightly larger proliferation body.