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现将我院遇到的4例粘多糖Ⅰ型病人报告如下。临床资料一般资料:本组4例为男性,年龄2～10岁,均为第1胎,除1例过期1个月分娩外,均足月顺产。父母染色体正常,非近亲结婚,无家族史。临床表现:本病因全身结缔组织均有过多粘多糖沉积,故可出现全身各系统的症状,表现为严重智力低下,面容丑陋,眼距宽,鼻通气不畅,耳位低,舌大,多毛,角膜混浊,2例出现耳聋,2例有疝气。肝
Now in our hospital encountered 4 cases of mucopolysaccharides type Ⅰ patients are reported below. Clinical data General information: This group of 4 patients were male, aged 2 to 10 years, are the first child, except 1 case of childbirth expired 1 month, were full-term delivery. Parents normal chromosomes, non-relatives married, no family history. Clinical manifestations: The cause of systemic connective tissue have excessive deposition of mucopolysaccharides, it can appear systemic symptoms of the system, manifested as severe mental retardation, ugly face, wide eyes, poor nasal ventilation, low ear, tongue, Hirsutism, corneal opacity, deafness in 2 cases and hernia in 2 cases. liver