基本説明
New in paperback. Hardcover was published in 2005.
Full Description
Velo-Cardio-Facial Syndrome (VCFS) is a genetic disorder caused by the deletion of part of chromosome 22. It occurs in approximately one in 4000 births and there are now more than 100 physical phenotypic features reported. VCFS affects every major system in the body and this 2005 book was the first to describe its full clinical impact. It has been authored by leading international VCFS clinicians/researchers. The focus is on clinical issues with chapters devoted to psychiatric disorders (with the sufferer showing very high levels of schizophrenia), neuroimaging, speech and language disorders, as well as cardiac, ENT, gastrointestinal, ophthalmic and urological manifestations. Molecular genetics, immunodeficiency and genetic counselling are also covered, and practical approaches to diagnosis and treatment described. As VCFS is seen as a paradigm for other microdeletion disorders, this book will not just appeal to clinicians seeing VCFS patients, but also to those interested in other genetic disorders.
Contents
1. Historical overview Robert J. Shprintzen; 2. Molecular genetics of Velo-cardio-facial syndrome Peter Scambler; 3. Congenital cardiovascular disease and Velo-cardio-facial syndrome Bruno Marino, Federica Mileto, Maria Cristina Digilio, Adriano Carotti and Robert Di Donato; 4. Palatal anomalies and velopharyngeal dysfunction associated with Velo-cardio-facial syndrome Richard E. Kirschner; 5. Nephro-urologic, gastrointestinal and opthamic findings Koen Devriendt, Nathalie Rommel and Ingele Casteels; 6. Immunodeficiency in Velo-cardio-facial syndrome Kathleen E. Sullivan; 7. Behavioural and psychiatric disorder in Velo-cardio-facial syndrome Angela F. Stevens and Kieran C. Murphy; 8. The cognitive spectrum in individuals with Velo-cardio-facial syndrome Linda Campbell and Ann Swillen; 9. Neuroimaging in Velo-cardio-facial syndrome Stephan Eliez and Therese van Amelsvoort; 10. Speech language disorders Karen J. Golding-Kushner; 11. Genetic counseling Donna M. McDonald-McGinn and Elaine H. Zackai; 12. Family issues Julie Squair.
