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粘多糖病工型(Mucopolysaccharidocs—Ⅰ型)又称承溜病(Gargoylism)或Hurler氏综合征,是一种较为少见的常染色休隐性遗传疾病。我们发现同胞兄弟2例,现报告如下。 例1,男,6岁。1岁半才能走,3岁时仅能叫爸、妈,身高不如同龄儿童,反应较迟钝,现说话不能成句,数数不过了。两侧肘部、手指无法伸直,届曲不灵,手掌向外倾斜。患孩系第一胎足月顺产。母亲无糖尿病史,怀孕时无高烧。父母非近亲婚配,
Mucopolysaccharidocs-type, also known as Gargoylism or Hurler’s syndrome, is a relatively rare inherited recessive inherited disease. We found two siblings, are as follows. Example 1, male, 6 years old. 1 year and a half before they can go, 3-year-old can only be called father, mother, as tall as children of the same age, the response is relatively slow, can not speak into words, the number however. Elbow on both sides, fingers can not be straightened, the song is not working, the palm tilted outward. Childbirth of the first child full-term birth. Her mother had no history of diabetes and had no high fever during pregnancy. Parents non-relatives marriage,