家族性杜安氏回缩综合症。

N L Busch, C S Envani, K A Frantz, D H Ireland
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引用次数: 0

摘要

背景:一个多世纪以来,杜安氏回缩综合征(DRS)一直被描述为一种临床症状。虽然大多数病例是自发发生的,但也有一些病例是遗传性的。病例报告:一个年轻的罗马尼亚男孩与已知的左拐缺陷被确定为DRS。在对其他家庭成员进行彻底检查后,发现他的弟弟和父亲也患有这种综合症。描述了受影响的家庭成员的临床表现。结果:所有三个家庭成员都表现出左内斜视,同时左眼向外转动的能力受损。他们还表现出反常的头部转向左侧,轻度睑裂狭窄和内收时眼球内收。这些都是单侧DRS的典型症状。结论:这些发现为一些DRS病例的常染色体显性遗传模式提供了进一步的证据。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Familial Duane's retraction syndrome.

Background: Duane's retraction syndrome (DRS) has been described as a clinical entity for more than a century. Although the majority of cases occur spontaneously, some cases of DRS are inherited.

Case reports: A young Romanian boy with a known left abduction deficit was determined to have DRS. On thorough examination of other family members, it was discovered that his younger brother and father also had the syndrome. Clinical findings of the affected family members are described.

Results: All three family members showed left esotropia in primary gaze, along with a compromised ability to turn the left eye outward. They also demonstrated an anomalous head turn to the left, and mild narrowing of the palpebral fissure and retraction of the globe on adduction. These are all classic signs of unilateral DRS.

Conclusion: These findings provide further evidence of an autosomal dominant mode of inheritance in some cases of DRS.

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