Mandibular Dysmorphology and Clinical Presentation in Treacher Collins Syndrome.

IF 1.2 4区 医学 Q3 DENTISTRY, ORAL SURGERY & MEDICINE
Cleft Palate-Craniofacial Journal Pub Date : 2024-11-01 Epub Date: 2023-06-25 DOI:10.1177/10556656231184967
C Tonello, G B Dias, R B Nunes, C Y Fussuma, L R Sousa, L B Feitosa, R L Flores, N Alonso
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引用次数: 0

Abstract

Introduction: Treacher Collins syndrome is a rare congenital disease characterized by the multiple craniofacial malformations. Although the deformities affecting patients with Treacher Collins syndrome have been well characterized, the effects of these malformations to clinical severity of the syndrome are not well understood.

Objective: To determine the association of specific Treacher Collins mandibular malformations with clinical severity.

Design: A retrospective radiographic observational study.

Setting: Study conducted at a single institution, a quaternary craniofacial care center.

Patients: 54 patients with Treacher Collins syndrome.

Interventions: Computed tomography (CT), clinical photographs and medical history were included in this analysis. Mandibles were isolated from CT data and reconstructed in three dimensions using Mimics software. Cephalometric measurements were performed on CT data. Clinical severity was determined by Teber and Vincent scores. Association of craniofacial dysmorphology to clinical severity was determined by Spearman rank coefficient.

Main outcome measures: The main results obtained were the measurements of the mandibles and the quantification of the malformations of the evaluated patients.

Results: Among the most frequent findings in the sample are hypoplasia of the zygomatic complex, descending palpebral cleft and mandibular hypoplasia. Patients with a lower ramus/corpus ratio had a higher (more severe) Teber and Vincent classification.

Conclusion: Patients with the most compromised mandible are also the patients with the highest number of malformations, thus, the most severe patients.

特雷撤-科林斯综合征的下颌骨畸形和临床表现。
导言特雷撤-科林斯症候群(Treacher Collins Syndrome)是一种以多发性颅面畸形为特征的罕见先天性疾病。尽管特雷撤-科林斯综合征患者的畸形特征已经非常明显,但这些畸形对该综合征临床严重程度的影响却不甚了解:确定特雷撤-科林斯下颌骨畸形与临床严重程度的关系:设计:回顾性放射学观察研究:患者:54名特雷撤-科林斯症候群患者:54名特雷撤-科林斯综合征患者:本次分析包括计算机断层扫描(CT)、临床照片和病史。从 CT 数据中分离出下颌骨,并使用 Mimics 软件进行三维重建。根据 CT 数据进行头颅测量。临床严重程度由 Teber 和 Vincent 评分确定。颅面畸形与临床严重程度的关系通过斯皮尔曼秩系数确定:主要结果为下颌骨的测量值和被评估患者畸形的量化值:结果:样本中最常见的畸形是颧骨发育不全、下睑裂和下颌骨发育不全。牙嵴/牙槽骨比率较低的患者的特伯和文森特分级更高(更严重):结论:下颌骨受损最严重的患者也是畸形最多的患者,因此也是最严重的患者。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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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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