Davoody Amirparviz, Chen I-Ping, Nanda Ravindra, Uribe Flavio, Reichenberger Ernst J
University of Connecticut Health Center, Department of Craniofacial Sciences, Division of Orthodontics, Farmington, CT 06030, USA.
Cleft Palate Craniofac J. 2012 Sep;49(5):e55-60. doi: 10.1597/10-256. Epub 2011 Jul 8.
Oculofaciocardiodental syndrome is a rare genetic disorder affecting ocular, facial, dental, and cardiac systems. The clinical diagnosis of oculofaciocardiodental syndrome can be challenging due to a wide variety of symptoms. Oculofaciocardiodental syndrome is found only in females due to its X-linked inheritance pattern and embryonic lethality for males. Radiculomegaly of canines is the most consistent finding in these patients. In this report we present a female patient with characteristic facial features, as well as a comprehensive overview of oculofaciocardiodental syndrome. Diagnosis of oculofaciocardiodental syndrome in this patient was verified by genetic analysis, during which we found a novel mutation in BCOR.
眼面心牙综合征是一种罕见的遗传性疾病，会影响眼部、面部、牙齿和心脏系统。由于症状多种多样，眼面心牙综合征的临床诊断可能具有挑战性。由于其X连锁遗传模式以及男性胚胎致死性，眼面心牙综合征仅在女性中发现。犬齿神经根粗大是这些患者最一致的表现。在本报告中，我们介绍了一名具有特征性面部特征的女性患者，并对眼面心牙综合征进行了全面概述。通过基因分析证实了该患者患有眼面心牙综合征，在此过程中我们在BCOR中发现了一个新的突变。
