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腭心面综合征:成人期的精神问题及认知衰退谱系

The velo-cardio-facial syndrome: the spectrum of psychiatric problems and cognitive deterioration at adult age.

作者信息

Evers L J M, De Die-Smulders C E M, Smeets E E J, Clerkx M G M, Curfs L M G

机构信息

Koraal Group, MFCG, Multi-Disciplinary Centre for Dual Disabilities, Heel, The Netherlands.

出版信息

Genet Couns. 2009;20(4):307-15.

Abstract

The velo-cardio-facial syndrome: the spectrum of psychiatric problems and cognitive deterioration at adult age: Deletion 22q11.2 syndrome, or the velo-cardio-facial syndrome (VCFS), is a syndrome with a known but varied clinical and behavioral phenotype. We report 7 patients with 22q11.2 deletion syndrome and an intellectual disability. Aside from the described behavioral phenotype in literature, a moderate, severe or profound intellectual disability may be present. Special attention should be given to cognitive deterioration.

摘要

腭心面综合征

成人期精神问题和认知衰退的范围:22q11.2缺失综合征,即腭心面综合征(VCFS),是一种具有已知但多样临床和行为表型的综合征。我们报告了7例患有22q11.2缺失综合征且有智力障碍的患者。除了文献中描述的行为表型外,可能还存在中度、重度或极重度智力障碍。应特别关注认知衰退。

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