The Chromosome 22q11.2 Deletion Syndrome: A Multidisciplinary Approach to Diagnosis and Treatment

The Chromosome 22q11.2 Deletion Syndrome: A Multidisciplinary Approach to Diagnosis and Treatment serves as the first comprehensive, user-friendly resource on the diagnosis, treatment and patient aspects of this syndrome. Leading international contributors cover the background, genetics, testing methods and pathophysiology of 22q11.2DS, placing emphasis on a strong foundation for multidisciplinary treatment strategies. Written by specialists in cardiology, immunology, endocrinology, gastroenterology, hematology, ophthalmology and neurology, among other fields, this book presents an authoritative resource with full color figures, flow charts and tables that enhance concept illustration and aid in real-time decision-making. As 22q11.2DS has become a model for understanding rare and frequent congenital anomalies, this book will help researchers, clinicians and advanced students gain a full understanding of how to diagnosis and treat rare genetic diseases. Provides a comprehensive description of 22q11.2DS syndrome for healthcare professionals, researchers and studentsPresents diagnostic and treatment strategies to help tackle this complex and often misdiagnosed and undertreated syndromeCovered in a user-friendly, practical format that emphasizes evidence-based evaluation and treatment derived from the latest research in the fieldFeatures leading international contributors in various sub-specialties, representing the many body systems affected by this syndromeIncludes full color figures, flow charts and tables to guide real-time decision-making INDICE: 1. Background 2. Genetics, Mechanism and Pathophysiology 3. Developmental Biology 4. Cardiology 5. Immunology6. Palate 7. ENT 8. Endocrine 9. Gastroenterology 10. Genitourinary 11. Hematology 12. Skeletal 13. Ophthalmology14. Neurology 15.. Developmental Trajectories 16. Speech and Language 17. Child Psychiatry18. Adult Psychiatry 19. Primary Pediatric Care 20. Transition to Adulthood 21. Reproduction 22. Quality of Life 23. Future Directions 25. General Principles 26. What are the medical needs of patients with 22q11.2DS?

• ISBN: 978-0-12-816047-3
• Editorial: Academic Press
• Encuadernacion: Rústica
• Páginas: 424
• Fecha Publicación: 01/06/2020
• Nº Volúmenes: 1
• Idioma: Inglés