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斯-韦二氏综合征(遗传性关节眼病)。

The Stickler syndrome (hereditary arthro-ophthalmopathy).

作者信息

Say B, Berry J, Barber N

出版信息

Clin Genet. 1977 Sep;12(3):179-82. doi: 10.1111/j.1399-0004.1977.tb00921.x.

Abstract

Three patients with Stickler syndrome are reported. Two of the patients were found among the 26 children attending a special pre-school for the visually impaired. One of the patients had bilateral choanal atresia which may represent an extreme example of the mid-facial hypoplasia commonly seen in these patients. It appears that Stickler syndrome may not be as rare as previously thought.

摘要

报告了3例Stickler综合征患者。其中2例患者是在一所针对视力障碍儿童的特殊幼儿园就读的26名儿童中发现的。其中1例患者患有双侧后鼻孔闭锁,这可能是这些患者中常见的面中部发育不全的一个极端例子。看来,Stickler综合征可能并不像以前认为的那么罕见。

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