婴儿型全身性玻璃样变性是一种遗传病,其会导致出生时或后有关节挛缩,红色素于骨头突出处大量形成,在真皮层内有玻璃样透明物质聚集,并带有全身性玻璃样纤维瘤。皮肤有珍珠样丘疹小肉瘤牙床过度生长与皮肤粗燥;骨质亦会减少。

Quick Facts Infantile systemic hyalinosis, 类型 ...
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此遗传病的发生率未知。

遗传方面,其遗传方式为体染色体隐性遗传,致病基因位于第4号染色体q21位置上。

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