Synopses & Reviews
A definitive text describing the diagnosis, treatment and molecular biology of Velo-cardio-facial Syndrome.
Review
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"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
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.