Arjun Sharma MD, Sanjana Suraneni BS, Elena Bitrian MD, Craig A. McKeown MD
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引用次数: 0
Abstract
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.
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.