与鲁宾斯坦-泰比综合征 II 型相关的杜安综合征。

IF 16.4 1区化学 Q1 CHEMISTRY, MULTIDISCIPLINARY

Accounts of Chemical Research Pub Date : 2024-10-01 DOI:10.1016/j.jaapos.2024.103990

Arjun Sharma MD, Sanjana Suraneni BS, Elena Bitrian MD, Craig A. McKeown MD

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引用次数: 0

摘要

我们报告了一例 8 个月大的婴儿病例，该婴儿妊娠 33 周时出生，因左眼外展障碍和小头畸形转诊至我院进行评估。眼科检查发现，该婴儿左眼外展缺损，内收时睑裂变窄，外展时睑裂变宽，与杜安综合征一致。基因检测发现了致病基因 EP300 突变，确认为鲁宾斯坦-泰比综合征 II 型。杜安综合征和鲁宾斯坦-泰比综合征并发的病例非常罕见，文献中仅有 3 例，其中 2 例经基因证实。鲁宾斯坦-泰比综合征的颅神经可能受累，这可能是其与杜安综合征并发的原因，而杜安综合征在 EP300 介导的疾病中似乎更为常见。

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Duane syndrome associated with Rubinstein-Taybi syndrome type II

We report the case of an 8-month-old infant born at 33 weeks’ gestation referred to our institution for evaluation of left eye abduction deficit and microcephaly. Ophthalmic examination revealed a left eye abduction deficit with palpebral fissure narrowing on adduction along with palpebral fissure widening on abduction, consistent with Duane syndrome. Genetic testing revealed a pathogenic EP300 mutation confirming Rubinstein-Taybi syndrome type II. The cooccurrence of Duane syndrome and Rubinstein-Taybi syndrome is rare, with only 3 cases in the literature, 2 with genetic confirmation. Potential involvement of the cranial nerves in Rubinstein-Taybi syndrome may explain its cooccurrence with Duane syndrome, which is seemingly more common in EP300-mediated disease.

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来源期刊

Accounts of Chemical Research 化学-化学综合

CiteScore

31.40

自引率

1.10%

发文量

312

审稿时长

2 months

期刊介绍： Accounts of Chemical Research presents short, concise and critical articles offering easy-to-read overviews of basic research and applications in all areas of chemistry and biochemistry. These short reviews focus on research from the author’s own laboratory and are designed to teach the reader about a research project. In addition, Accounts of Chemical Research publishes commentaries that give an informed opinion on a current research problem. Special Issues online are devoted to a single topic of unusual activity and significance. Accounts of Chemical Research replaces the traditional article abstract with an article "Conspectus." These entries synopsize the research affording the reader a closer look at the content and significance of an article. Through this provision of a more detailed description of the article contents, the Conspectus enhances the article's discoverability by search engines and the exposure for the research.