Velocardiofacial Syndrome--a Syndrome with Many Faces (Case Study)
South African Journal of Psychiatry 2011, August, 17, 3
South African Journal of Psychiatry
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Among the many features with which velocardiofacial syndrome (VCFS) may present, we review in this paper the literature on working memory deficits, dysmorphic features, co-morbid obsessive-compulsive disorder, early deviant behaviour, functional impairment, and early age of onset of schizophrenia. These features are considered in a case series of 5 patients, and in addition we report on uncommon features. We highlight the importance of appropriate genetic counselling and need for preventive treatments in the future. Considering that covert symptoms in VCFS may easily be overlooked, we call for clinical vigilance in detecting VCFS among patients suffering from schizophrenia using the Bassett and Chow criteria, because the diagnosis of VCFS is of importance in determining prognosis and providing appropriate genetic counselling. MERGEFIELD background Velocardiofacial syndrome (VCFS), also known as DiGeorge or Shprintzen syndrome, is associated with small deletions of chromosome 22q11. It was first described by Shprintzen et al. and has an estimated prevalence of 1 in 5 950 births, making it the second most common genetic syndrome after Down syndrome. (1,2) It has been shown that patients with a hemizygous deletion of the q11 band of chromosome 22 are at a high risk of serious psychiatric illnesses, schizophrenia being the most common of these. (3-8) They have a 29 times higher risk than the general population of developing schizophrenia and 3 times the risk of having a first-degree relative with schizophrenia. (8,9) The familial pattern of schizophrenia has been recognised for a long time. (1,10-12) The 22q11 deletion syndrome (DS) occurs most frequently as a sporadic mutation in schizophrenia, but inheritance plays a role in 10% of cases.
- Category: Health & Fitness
- Published: Aug 01, 2011
- Publisher: South African Medical Association
- Seller: The Gale Group, Inc.
- Print Length: 19 Pages
- Language: English