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• 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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• 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.

Select Guide Rating

• 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.