Aarskog-Scott 综合征的伶咽特征:病例报告

IF 18 1区 化学 Q1 CHEMISTRY, MULTIDISCIPLINARY Accounts of Chemical Research Pub Date : 2024-05-01 Epub Date: 2022-12-06 DOI:10.1177/10556656221141235
Lakshmi Kollara, Samantha L Reiss, Sreekara Singam, Brian Kellogg
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引用次数: 0

摘要

阿尔斯科格-斯科特综合征(AAS)又称面-数-生殖综合征,是一种罕见的异源综合征,以面部畸形、手足畸形和遗传异常为特征。虽然有报道称 AAS 存在严重的颅面畸形,但人们对 AAS 的言语和共鸣问题知之甚少。具体来说,迄今为止,已发表的数据中仅有 AAS 患者伴有腭裂的高鼻音报告。本病例报告提供了一名 AAS 患者在没有明显腭裂的情况下出现的高鼻音言语的临床和解剖信息。
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Velopharyngeal Characteristics in Aarskog-Scott Syndrome: A Case Report.

Aarskog-Scott syndrome (AAS), also known as facio-digito-genital syndrome, is a rare heterogenous syndrome characterized by facial dysmorphism, brachydactyly, and genetic abnormalities. Although severe craniofacial abnormalities have been reported in AAS, little is known about speech and resonance issues in AAS. Specifically, published data to date have only indicated reports of hypernasality associated with a cleft palate in AAS. This case report provides clinical and anatomic information surrounding hypernasal speech in the absence of an overt cleft palate in a patient with AAS.

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来源期刊
Accounts of Chemical Research
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.
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