MPSⅡ—B型综合征家系观察

OBSERVATION ON FAMILY WITH MPS Ⅱ—B SYNDROM

本文分析了MPSⅡ—B型综合征家系,发现连续两代6位患者均为男性,未见染色体数目、结构异常,实属■—连锁隐性遗传。病情进展显示:发病早者。病重发病晚者,病轻。患者有角膜清晰、智力正常、无驼背之特征将与MPS Ⅰ型相鉴别。

ABSTRACT This paper reports a familywith MPSⅡ—B syndrome. All the six patients in two successive generations were males; abnormal chromosomes were not seen. They were of X-Linked recessive inheritace. The conrse of the disease showed that the earlier the onset the more severe the disease. The patients with MPSⅡ—Bsyndrom were eharaetered by clear cornea,normal intelligence and no hunchback. These are different from those of MPS—Ⅰ.