Evers L J M, Vermaak M P, Engelen J J M, Curfs L M G
St Anna Foundation, Centre for People with a Mental Disability, Heel, The Netherlands.
Genet Couns. 2006;17(3):333-40.
Velocardiofacial syndrome (VCFS) is a syndrome with a known, but variable clinical and behavioural phenotype. Most reported cases are patients of a relatively young age. The development of the behavioural phenotype and psychopathology in older patients with VCFS is less known. We present a case of a 52 year old male patient with VCFS and a deletion in chromosome band 22q11.2. He presents with typical symptoms reported in the behavioural phenotype, autistic features and an overall deteriorating process, which fulfils the DSMIV criteria for dementia.
腭心面综合征（VCFS）是一种具有已知但可变的临床和行为表型的综合征。大多数报告病例是相对年轻的患者。年龄较大的VCFS患者行为表型和精神病理学的发展情况鲜为人知。我们报告一例52岁男性VCFS患者，其22q11.2染色体带存在缺失。他表现出行为表型中报告的典型症状、自闭症特征以及整体病情恶化过程，符合DSM-IV痴呆标准。
