蓝尿布综合征的眼部异常。

Metabolic, pediatric, and systemic ophthalmology (New York, N.Y. : 1985) Pub Date : 1991-01-01

Y Chen, L Wu, Q Xiong

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引用次数: 0

摘要

我们描述了在一种新的代谢疾病中看到的眼部异常，这种疾病缺乏色氨酸的运输。除了先前报告的症状和体征外，我们还发现了小圆锥，视盘发育不全和异常眼球运动在我们的病例中-一个10岁的男孩。兄弟姐妹的参与和父母的近亲婚姻表明是隐性遗传。

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The ocular abnormalities of blue diaper syndrome.

We describe the ocular abnormalities seen in a new metabolic disease which is deficient in the transport of tryptophan. Besides the symptoms and signs reported previously, we have found microconea, hypoplasia of the optic disc and abnormal eye movements in our case--a ten-year-old-boy. The sibling involvement and consaguineous marriage of the parents suggest a recessive heredity.

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Metabolic, pediatric, and systemic ophthalmology (New York, N.Y. : 1985)

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