The velocardiofacial syndrome in older age: dementia and autistic features
Evers, L.J.M.; Vermaak, M.P.; Engelen, J.J.M.; Curfs, L.M.G.
Genetic Counseling 17(3): 333-340
2006
ISSN/ISBN: 1015-8146 PMID: 17100202 Document Number: 598624
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.