This updated new edition provides health professionals with an invaluable, structured approach to the preventive care of children with congenital disorders. Over 150 conditions ranging from cerebral palsy to Down syndrome are discussed. For each disorder there is an introductory summary of key information, followed by more detailed listing of general pediatric and speciality concerns, all structured to provide an integrated approach to patient care. The text provides details of medical complications and preventive recommendations supported by key literature and web resources for parents and professionals.…mehr
This updated new edition provides health professionals with an invaluable, structured approach to the preventive care of children with congenital disorders. Over 150 conditions ranging from cerebral palsy to Down syndrome are discussed. For each disorder there is an introductory summary of key information, followed by more detailed listing of general pediatric and speciality concerns, all structured to provide an integrated approach to patient care. The text provides details of medical complications and preventive recommendations supported by key literature and web resources for parents and professionals.
Preface Part I. Approach to the Child with Special Needs: 1. Approach to the child with genetic disease 2. Providing a primary care medical home for the child with developmental disability 3. Approach to preventive management Part II. The Management of Selected Single Congenital Anomalies and Associations: 4. Congenital anomalies associated with developmental disability 5. Single anomalies, sequences and associations 6. Teratogenic syndromes Part III. Chromosomal Syndromes: 7. Autosomal aneuploidy syndromes 8. Sex chromosome aneuploidy and X-linked mental retardation 9. Chromosome microdeletion syndromes Part IV. Syndromes Remarkable for Altered Growth: 10. Syndromes with proportionate growth failure as a primary manifestation 11. Syndromes with disproportionate growth failure 12. Overgrowth syndromes 13. Hamartosis syndrome Part V. Management of Craniofacial Syndromes: 14. Craniosynostosis syndromes 15. Branchial arch and face/limb syndrome Part VI. Management of Connective Tissue and Integumentary Syndromes: 16. Connective tissue disorders 17. Integumentary syndromes Part VII. Management of Neurologic and Neurodegenerative Syndromes: 18. Neurologic syndromes including the arthrogryposes Part VIII. Management of Neurodegenerative Metabolic Disorders 19. Organellar and miscellaneous neurodegenerative disorders 20. Metabolic dysplasias susceptible to dietary treatment References Index.
Preface Part I. Approach to the Child with Special Needs: 1. Approach to the child with genetic disease 2. Providing a primary care medical home for the child with developmental disability 3. Approach to preventive management Part II. The Management of Selected Single Congenital Anomalies and Associations: 4. Congenital anomalies associated with developmental disability 5. Single anomalies, sequences and associations 6. Teratogenic syndromes Part III. Chromosomal Syndromes: 7. Autosomal aneuploidy syndromes 8. Sex chromosome aneuploidy and X-linked mental retardation 9. Chromosome microdeletion syndromes Part IV. Syndromes Remarkable for Altered Growth: 10. Syndromes with proportionate growth failure as a primary manifestation 11. Syndromes with disproportionate growth failure 12. Overgrowth syndromes 13. Hamartosis syndrome Part V. Management of Craniofacial Syndromes: 14. Craniosynostosis syndromes 15. Branchial arch and face/limb syndrome Part VI. Management of Connective Tissue and Integumentary Syndromes: 16. Connective tissue disorders 17. Integumentary syndromes Part VII. Management of Neurologic and Neurodegenerative Syndromes: 18. Neurologic syndromes including the arthrogryposes Part VIII. Management of Neurodegenerative Metabolic Disorders 19. Organellar and miscellaneous neurodegenerative disorders 20. Metabolic dysplasias susceptible to dietary treatment References Index.
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