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特雷彻·柯林斯综合征:当前的评估、治疗及未来方向。

Treacher Collins syndrome: current evaluation, treatment, and future directions.

作者信息

Posnick J C, Ruiz R L

机构信息

Posnick Center for Facial Plastic Surgery, Chevy Chase, Maryland 20815, USA.

出版信息

Cleft Palate Craniofac J. 2000 Sep;37(5):434. doi: 10.1597/1545-1569(2000)037<0434:TCSCET>2.0.CO;2.

Abstract

OBJECTIVE

Treacher Collins syndrome (TCS) is an inherited disorder in which there are general bilateral symmetric anomalies of the structures within the first and second branchial arches. In general, there is complete penetrance and variable expressivity of the trait. The craniofacial rehabilitation of a child with TCS is tailored to the extent of the deformities involved: the orbitozygomatic region, the maxillomandibular region, the nose, facial soft tissues, and external and middle ear structures.

CONCLUSION

This article reviews the range of clinical features and specific dysmorphology observed in TCS. Functional and aesthetic objectives are discussed, and a comprehensive staged reconstructive approach is outlined, which may be used as a roadmap for treatment planning.

摘要

目的

特雷彻·柯林斯综合征(TCS)是一种遗传性疾病,其第一和第二鳃弓内的结构存在双侧对称性异常。一般来说,该性状具有完全外显率和可变表达性。患有TCS的儿童的颅面康复是根据所涉及畸形的程度进行定制的:眶颧区域、上颌下颌区域、鼻子、面部软组织以及外耳和中耳结构。

结论

本文综述了TCS中观察到的临床特征范围和特定的畸形。讨论了功能和美学目标,并概述了一种全面的分期重建方法,可作为治疗计划的路线图。

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