Velo-Cardio-Facial Syndrome

A Model for Understanding Microdeletion Disorders

Häftad, Engelska, 2010

AvKieran C. Murphy,Peter J. Scambler,Royal College of Surgeons of Ireland) Murphy, Kieran C. (Education and Research Centre,University College London) Scambler, Peter J. (Institute of Child Health

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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.

Produktinformation

Utgivningsdatum2010-12-23
Mått170 x 244 x 14 mm
Vikt420 g
FormatHäftad
SpråkEngelska
Antal sidor258
FörlagCambridge University Press
ISBN9780521184328

Tillhör följande kategorier

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.

Review of the hardback: 'This is a wonderful, highly specialized tool for clinicians in general. It is a great source for multiple specialities (pediatric cardiology, ENT, medical genetics, etc.). The work presented here is unique, with no other similar books in the market. The integration of the different aspects of VCFS makes this a great instrument for multidisciplinary teams.' Doody's Book Review Service