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
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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
"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
Book Description
Velo-Cardio-Facial Syndrome (VCFS) is a genetic disorder caused by deletion of part of chromosome 22. The focus is clinical issues with chapters devoted to psychiatric disorders, neuroimaging, speech and language, cardiac, ENT, gastrointestinal, ophthalmic and urological manifestations. This 2005 book has been authored by leading international VCFS clinicians and researchers.
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This review is from: Velo-Cardio-Facial Syndrome: A Model for Understanding Microdeletion Disorders (Paperback)
Great book. It is a little too technical in some chapters for a non-medical people, but it is a great book to own.
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Inside This Book
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Key Phrases - Statistically Improbable Phrases (SIPs):
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velopharyngeal motion, velopharyngeal dysfunction, microdeletion disorders, occult submucous cleft palate, conotruncal heart anomalies, pharyngeal depth, submucosal cleft palate, cervical aortic arch, syndrome involving cleft palate, velopharyngeal valve, pharyngeal flap surgery, intravelar veloplasty, overt cleft palate, submucosal clefts, velocardiofacial syndrome, palatal anomalies, conotruncal defects, velopharyngeal function, interstitial chromosome, compensatory errors, multicystic renal dysplasia, overt clefts, cranial base angle, diffuse hypoplasia, deletion syndrome Key Phrases - Capitalized Phrases (CAPs): (learn more)
Cambridge University Press, New York, Van Mierop, Educational Foundation, San Diego, Velo-Cardial-Facial Syndrome, Singular Publishing Group, Van Esch, The Philadelphia, Van Praagh, Birth Defects Original Article Series, Furlow Z-plasty, John Wiley, Aorta Right, Cell Biol, Child Neuropsychol, Guilford Press, Head Neck Surg, Hum Genet, Oxford University Press, Penman Splitt, San Antonio New!
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Front Cover | Table of Contents | First Pages | Index | Back Cover | Surprise Me!
velopharyngeal motion, velopharyngeal dysfunction, microdeletion disorders, occult submucous cleft palate, conotruncal heart anomalies, pharyngeal depth, submucosal cleft palate, cervical aortic arch, syndrome involving cleft palate, velopharyngeal valve, pharyngeal flap surgery, intravelar veloplasty, overt cleft palate, submucosal clefts, velocardiofacial syndrome, palatal anomalies, conotruncal defects, velopharyngeal function, interstitial chromosome, compensatory errors, multicystic renal dysplasia, overt clefts, cranial base angle, diffuse hypoplasia, deletion syndrome Key Phrases - Capitalized Phrases (CAPs): (learn more)
Cambridge University Press, New York, Van Mierop, Educational Foundation, San Diego, Velo-Cardial-Facial Syndrome, Singular Publishing Group, Van Esch, The Philadelphia, Van Praagh, Birth Defects Original Article Series, Furlow Z-plasty, John Wiley, Aorta Right, Cell Biol, Child Neuropsychol, Guilford Press, Head Neck Surg, Hum Genet, Oxford University Press, Penman Splitt, San Antonio New!
Books on Related Topics | Concordance | Text Stats Browse Sample Pages:
Front Cover | Table of Contents | First Pages | Index | Back Cover | Surprise Me!
Citations (learn more)
This book cites 20
books:
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- Management of Genetic Syndromes (Cassidy, Management of Genetic Syndromes) by Suzanne B. Cassidy on page 17, and page 200
- Heart Development by Richard P. Harvey on page 40, and page 42
- Cleft Palate Speech Management: A Multidisciplinary Approach by Robert J. Shprintzen PhD on page 199, and page 200
- Adolescent Psychiatry (Current Reviews in Psychiatry, 3) by Peter D. Hill in Front Matter
- The Developing Human: Clinically Oriented Embryology, 7e by Keith L. Moore MSc PhD FIAC FRSM FAAA on page 181
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