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马凡氏综合征(Marfans syndrome)是一常染色体显性遗传疾病,主要累及全身结缔组织,导致骨骼、眼及心血管系统病变。本病较少见,国内最早(1950年)由张晓楼氏报告。我院于1972年曾收治1例,进行拇趾过长手术矫正,已随访10年,现报道于下:任××,女,12岁,住院号28108,于1972年3月2日入院。病史:四肢细长12年,拇趾过长、行走困难2年。出生后两手握拳至1岁才展开,发现手指细长,未注意脚趾。5岁时身体细而高,手指及足趾明显细长,当11岁时发现双足拇趾明显增长,走路时双脚互相碰撞,伴有脚疼,致行走困难。12岁时穿父亲的40码鞋。既往体弱,不愿参加体育活动,学习成绩中等,无心慌气短,视力正常。家族中父母健在,非近亲结婚,家族三代中无类似疾病。
Marfans syndrome is an autosomal dominant genetic disorder involving the connective tissue of the body, leading to skeletal, ocular, and cardiovascular pathologies. The disease is rare, the earliest (1950) by Zhang Xiao House report. In our hospital in 1972, 1 had been treated for long toe correction operation, has been followed for 10 years, are reported below: any × ×, female, 12 years old, hospital number 28108, was admitted on March 2, 1972. History: limbs slender 12 years, long toe, walking difficult for 2 years. Fist after birth two hands to 1 year old to start, found his fingers slender, did not pay attention to the toes. 5 years old body thin and tall, fingers and toes was significantly slender, when the age of 11 found that significant growth of the bipedal toes, walking when the feet collide with each other, accompanied by foot pain, resulting in walking difficulties. Wear my father’s 40-yard shoes when I was 12 years old. Previously frail, unwilling to participate in physical activity, academic performance, calm, shortness of breath, normal vision. Family parents are alive, non-relatives get married, no similar family disease in three generations.