Velo-Cardio-Facial Syndrome: A Model for Understanding Microdeletion Disorders

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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.
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Editorial Reviews

Doody's Review Service
Reviewer: Luis F. Escobar, MD, MS (St. Vincent Hospital and Health Care Center)
Description: This is a wonderful compilation of up-to-date information about velo-cardio-facial syndrome (VCFS). It is a detailed review of the clinical factors involved in the management of patients affected with VCFS and it provides information on frequently overlooked areas such as speech and language disorders, family issues, and neuroimaging associated with VCSF.
Purpose: The purpose is to review recent information that until now has been sporadically discussed in the literature. Drs. Murphy and Scambler have accomplished the necessary goal of combining the knowledge from multiple disciplines involved in the care of VCFS patients.
Audience: Although the authors do not specify an audience, the highly specialized subject represents information that can be easily used by all healthcare professionals who are involved in the care of VCFS patients, including genetic counselors, social workers, pediatric cardiologists, psychiatrists, pediatricians, and clinical geneticists.
Features: This is a wonderful compilation on recent knowledge from different disciplines. The historical perspective is most interesting, but the topics of immunodeficiency, behavioral difficulties, neuroimaging, and family issues are new areas seldom discussed in the literature. The review of the nephro-urologic, gastrointestinal, and ophthalmic findings is extremely helpful for the management of VCFS patients.
Assessment: This is a wonderful, highly specialized tool for clinicians in general. It is a great source for multiple specialties (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.
From the Publisher
"As in Genre Analysis, Swales skilfully blends extensive knowledge in this area with detailed examples drawn from a variety of sources, including the Michigan Corpus of Academic Spoken English (MICASE). His writing is personal, honest, and humorous and fully captures the influence on the genres on the research world. It offers an important and rich discussion of the complexities involved in approaching and thinking about research genres." The Canadian Modern Language Review

"This is a wonderful, highly specialized tool for clinicians in general." - Luis F. Escobar, MD, Mt. St. Vincent Hospital and Health Care Center

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Product Details

  • ISBN-13: 9780521821858
  • Publisher: Cambridge University Press
  • Publication date: 7/28/2005
  • Pages: 256
  • Product dimensions: 6.85 (w) x 9.72 (h) x 0.91 (d)

Meet the Author

D.O.B 14.09.1963.

D.O.B 6.11.1958. BUPA Foundation Special Merit award; Guthrie medal of the British Paediatric Association. Elected Fellow of the Academy of Medical Sciences.

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Table of 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.
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