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腭心面综合征的面部表型。

The facial phenotype of the velo-cardio-facial syndrome.

作者信息

Butts Sydney C

机构信息

Department of Otolaryngology and Communication Sciences, SUNY Upstate Medical University, 750 East Adams Street, Syracuse, NY 13210, USA.

出版信息

Int J Pediatr Otorhinolaryngol. 2009 Mar;73(3):343-50. doi: 10.1016/j.ijporl.2008.10.011. Epub 2008 Dec 4.

DOI:10.1016/j.ijporl.2008.10.011
PMID:19062108
Abstract

Velo-cardio-facial syndrome (VCFS) is a genetic disorder that is common but often variable in its expression. Several key organ systems are most often affected, including the craniofacial skeleton and soft tissues. Identification of the associated facial features will aid in the improved detection of patients. This review aims to highlight the approaches to facial analysis that are essential to the detection of the facial dysmorphisms in velo-cardio-facial syndrome, many of which may be subtle.

摘要

腭心面综合征(VCFS)是一种常见的遗传性疾病,但其表现往往具有变异性。几个关键器官系统最常受到影响,包括颅面骨骼和软组织。识别相关的面部特征将有助于更好地检测患者。本综述旨在强调对面部进行分析的方法,这些方法对于检测腭心面综合征中的面部畸形至关重要,其中许多畸形可能很细微。

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