The facial phenotype of the veto-cardio-facial syndrome

被引:24
作者
Butts, Sydney C. [1 ]
机构
[1] SUNY Upstate Med Univ, Dept Otolaryngol & Commun Sci, Syracuse, NY 13210 USA
关键词
Platybasia; Long face syndrome; DiGeorge syndrome; Conotruncal anomaly face syndrome; Asymmetric crying facies; Velopharyngeal insufficiency; CONGENITAL HEART-DISEASE; VELOCARDIOFACIAL SYNDROME; 22Q11.2; DELETION; AIRWAY-OBSTRUCTION; ROBIN-SEQUENCE; DIAGNOSIS; MANIFESTATIONS; EMBRYOLOGY; MANAGEMENT; ANOMALIES;
D O I
10.1016/j.ijporl.2008.10.011
中图分类号
R76 [耳鼻咽喉科学];
学科分类号
100213 ;
摘要
Veto-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 veto-cardio-facial syndrome, many of which may be subtle. (C) 2008 Elsevier Ireland Ltd. All rights reserved.
引用
收藏
页码:343 / 350
页数:8
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