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黏多糖贮积症II - B型的临床特征及X线表现

[Clinical features and X-ray manifestations of mucopolysaccharidosis-II-B].

作者信息

Lan Q

出版信息

Zhonghua Fang She Xue Za Zhi. 1989 Oct;23(5):287-9.

PMID:2516792
Abstract

Mucopolysaccharidosis-II (MPS-II) and MPS-I are both characterized by gargoylist dwarfism. MPS-II is of X-linked recessive heredity. Five cases of MPS-II-B in our series were followed up for ten years. Corneal opacity and dysmnesia were not found in all of them. Although MPS-II possessed many radiologic similarities to MPS-I, the former presented certain characteristic features such as butterfish-like vertebra, and small triangular malformation of carpal bones and tarsal scaphoid etc.

摘要

黏多糖贮积症 II 型(MPS-II)和 MPS-I 均以粗陋面容侏儒症为特征。MPS-II 为 X 连锁隐性遗传。我们系列中的 5 例 MPS-II-B 患者接受了 10 年的随访。他们均未出现角膜混浊和记忆障碍。尽管 MPS-II 在影像学上与 MPS-I 有许多相似之处,但前者呈现出某些特征性表现,如鲳鱼样椎体、腕骨和跗舟骨小三角形畸形等。

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