Aarskog-Scott 综合征的伶咽特征:病例报告

IF 1.2 4区 医学 Q3 DENTISTRY, ORAL SURGERY & MEDICINE Cleft Palate-Craniofacial Journal 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
CiteScore
2.70
自引率
36.40%
发文量
215
期刊介绍: The Cleft Palate-Craniofacial Journal (CPCJ) is the premiere peer-reviewed, interdisciplinary, international journal dedicated to current research on etiology, prevention, diagnosis, and treatment in all areas pertaining to craniofacial anomalies. CPCJ reports on basic science and clinical research aimed at better elucidating the pathogenesis, pathology, and optimal methods of treatment of cleft and craniofacial anomalies. The journal strives to foster communication and cooperation among professionals from all specialties.
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