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老年期的腭心面综合征:痴呆与自闭症特征

The velocardiofacial syndrome in older age: dementia and autistic features.

作者信息

Evers L J M, Vermaak M P, Engelen J J M, Curfs L M G

机构信息

St Anna Foundation, Centre for People with a Mental Disability, Heel, The Netherlands.

出版信息

Genet Couns. 2006;17(3):333-40.

Abstract

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.

摘要

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。

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