Pike A C, Super M
Department of Clinical Genetics, Royal Manchester Children's Hospital, Pendlebury, UK.
Postgrad Med J. 1997 Dec;73(866):771-5. doi: 10.1136/pgmj.73.866.771.
Velocardiofacial syndrome is a syndrome of multiple anomalies that include cleft palate, cardiac defects, learning difficulties, speech disorder and characteristic facial features. It has an estimated incidence of 1 in 5000. The majority of cases have a microdeletion of chromosome 22q11.2. The phenotype of this condition shows considerable variation, not all the principal features are present in each case. Identification of the syndrome can be difficult as many of the anomalies are minor and present in the general population.
心脏颜面综合征是一种多系统异常综合征，包括腭裂、心脏缺陷、学习困难、言语障碍和特征性面部特征。其估计发病率为1/5000。大多数病例存在22q11.2染色体微缺失。这种疾病的表型有很大差异，并非每个病例都具备所有主要特征。由于许多异常表现轻微且在普通人群中也存在，因此该综合征的诊断可能存在困难。
