【摘要】 粘多糖病(MPs)Ⅱ型(Hunter Syndrome)与I型(Hurler Syndrome)在临床上都表现为承溜侏儒,常易混淆,但粘多糖病Ⅱ型系X连锁隐性遗传,只见于男性。本组5例同属一个母系的三个家庭,经10年观察,无角膜混浊及驼背现象,智力低下不明显。X线征虽与Ⅰ型有共同之处,但毕竟有区别,其中鲳鱼状椎骨、肱骨近端外翻、指骨比掌骨粗、跟骨腰部增粗,腕舟、跗舟骨细小呈三角状变形及软组织结节影等都是Ⅱ型的特征,可作为两者鉴别诊断时的参考。更多还原

【Abstract】 ABSTRACT M ucopolysaccharidosis Ⅱ (MPS Ⅱ)and MPS Ⅰ are both characterized by gargoylist dwarfism. So, they are often confused. MPS Ⅱ only affects malepersons because of its X—linked recessive heredity. Five cases were found in three families, who were all the maternal grandsons. Through 10 years of investigation there are no such features as hunchback, corneal nebula and, hypointelligence in all the five cases. These are quitedifferent from those of MPS Ⅰ although they are quite similar in X—ray films. The important features of MPS Ⅱ are: butterfish—Like vertebrae; extrophia of the near part of humeri; calcanea become bucky in the middle part. metacarpus are thicker than that of ossa digtorum manus: carpal scaphoid and os naviculare appear tobe small and triangular malformation; soft tissues take onnodose image. All of the tyoical characters can be used to differentiate MPS Ⅱ from MPS Ⅰ.更多还原