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猫叫综合征口腔和颅面部表现的系统评价

A systematic review of the oral and craniofacial manifestations of cri du chat syndrome.

作者信息

Corcuera-Flores José-Ramón, Casttellanos-Cosano Lizett, Torres-Lagares Daniel, Serrera-Figallo María Ángeles, Rodríguez-Caballero Ángela, Machuca-Portillo Guillermo

机构信息

Department of Integrated Dentistry for Adults and Patients with Special Diseases, School of Dentistry, University of Seville, Spain.

Department of Oral Surgery, School of Dentistry, University of Seville, Spain.

出版信息

Clin Anat. 2016 Jul;29(5):555-60. doi: 10.1002/ca.22654. Epub 2015 Dec 21.

Abstract

Cri du chat syndrome is an autosomal disorder. Because it affects few people in the population it is considered a rare disease, yet it is one of the most common autosomal chromosomal syndromes in humans. It entails pathognomonic alterations that affect the craniofacial and oral anatomy of patients. The aim of this study is to review these craniofacial and oral abnormalities in patients with Cri du chat syndrome. The PubMed Medline database was searched using two different strategies. First, we used "Dentistry" and "Cri du chat" as keywords; second, we used "Cri du chat" and "craniofacial." Seven articles in which the main orofacial and cranio-skeletal characteristics of patients with Cri du chat syndrome were described were selected according to the inclusion and exclusion criteria. Cri du Chat syndrome entails pathognomonic characteristics in the craniofacial area (epicanthus, short philtrum, and wide nasal bridge), the oral area (mandibular retrognathism and anterior open bite) and the cranial region (alterations at the cranial base angle and a small upper airway). However, more studies on larger samples are needed to specify the orofacial and craniofacial characteristics of patients with Cri du chat syndrome more accurately. Clin. Anat. 29:555-560, 2016. © 2015 Wiley Periodicals, Inc.

摘要

猫叫综合征是一种常染色体疾病。由于其在人群中的患病人数较少,所以被视为一种罕见病,但它却是人类中最常见的常染色体综合征之一。它会导致一些特征性改变,影响患者的颅面及口腔解剖结构。本研究的目的是回顾猫叫综合征患者的这些颅面及口腔异常情况。我们使用了两种不同策略在PubMed Medline数据库中进行检索。首先,我们使用“牙科”和“猫叫综合征”作为关键词;其次,我们使用“猫叫综合征”和“颅面”作为关键词。根据纳入和排除标准,我们筛选出了七篇描述猫叫综合征患者主要口面部和颅骨骼特征的文章。猫叫综合征在颅面部(内眦赘皮、人中短、鼻梁宽)、口腔区域(下颌后缩和前牙开颌)以及颅骨区域(颅底角改变和上呼吸道狭小)都有特征性表现。然而,还需要更多对更大样本的研究,以更准确地明确猫叫综合征患者的口面部和颅面特征。《临床解剖学》2016年第29卷:555 - 560页。© 2015威利期刊公司。

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