腭心面综合征临床特征和遗传学的研究进展

Research advances on the characterization of the clinical features and genetics of palatocardiofacial syndrome

腭心面综合征(VCFS)是在人类中发现的最常见的多发性异常综合征之一,主要与22号染色体长臂11区2带的染色体微缺失有关。患者存在腭部、心脏、颅面、免疫等多方面的复杂发育畸形。本文就近年来VCFS的临床表现和遗传特征的研究进展作一综述。

Velo cardio facial syndrome(VCFS), with 22 q11.2 deletion, is one of the most common multiple abnormal syndromes. VCFS is the most common hereditary disease in paediatric otolaryngology. Patients exhibit complex developmental malformations of the palate, heart, craniofacial, immune system and other organs. This review aimed to summarize recent advances in the characterization of the clinical manifestations and genetic characteristics of VCFS.