A new addition to the highly esteemed Nelson family of pediatric references, Nelson Pediatric Textbook of Rare Diseases: Genomic Etiologies and Genetic Diagnosis, edited by Drs. Robert Kliegman and Francesc (Paco) Palau, along with Associate Editors, Drs. Basel, Gropman, Slavotinek, Bacino, Rahman and Verbsky, provides a detailed and comprehensive guide to the diagnosis of rare disorders and the approach to undiagnosed diseases—offering in-depth content on a topic often just touched on in other pediatric textbooks. Written by the most prominent experts from around the world, this definitive text is an indispensable resource for any clinician treating pediatric patients.
1. Nelson Pediatric textbook of Rare Diseases: Genomic Etiologies and Genetic Diagnosis - p. i 2. Cover image - p. i 3. Title page - p. ii 4. Table of Contents - p. iii 5. Copyright - p. iv 6. Dedication - p. v 7. Contributors - p. vi 8. Preface - p. xvi 9. Acknowledgments - p. xvii 10. List of Illustrations - p. xviii 11. List of Tables - p. xix 12. Section I. Introductory Chapters - p. 1 13. 1. Finding the rare among the common: Diagnosis, Diagnostic Error, and When to Suspect a Rare Disease - p. 3 14. 2. Diagnostic methods: Genomics, Omics, Biomarkers, Imaging, and Other Technologies - p. 13 15. 3. The approach to rare diseases: From Local to Global - p. 41 16. Section II. Developmental Structural Disorders - p. 55 17. 4. Epigenetics, genomic imprinting, and imprinting disorders - p. 57 18. 5. Dysmorphology and phenotyping - p. 73 19. 6. Ciliary signaling and dysmorphology - p. 91 20. 7. Ciliopathies: Clinical Presentations and Syndromes - p. 101 21. 8. Mosaic overgrowth syndromes - p. 121 22. 9. Ectodermal dysplasia - p. 135 23. 10. Heritable disorders of connective tissue - p. 155 24. 11. Genetic disorders of bone - p. 207 25. Section III. Neuro-Sensory Disorders - p. 279 26. 12. Rare causes of autistic spectrum-like disorders and syndromes with autistic-like behaviors - p. 281 27. 13. Neurodegeneration with brain iron accumulation - p. 303 28. 14. Disorders of movement - p. 315 29. 15. Fever-associated seizures and epilepsies - p. 353 30. 16. Nonfebrile epilepsy syndromes including epileptic encephalopathies - p. 373 31. 17. Hereditary motor-sensory neuropathies or charcot-marie-tooth disease and related neuropathies - p. 393 32. 18. Sensory and autonomic neuropathies including familial dysautonomia and small fiber neuropathies - p. 415 33. 19. Metabolic myopathies - p. 433 34. 20. Skeletal muscle channelopathies: Periodic Paralyses and Nondystrophic Myotonias - p. 455 35. 21. Congenital blindness - p. 473 36. 22. Late-onset blindness - p. 507 37. 23. Sensorineural hearing loss - p. 529 38. Section IV. Cardiopulmonary Disorders - p. 537 39. 24. Interstitial lung diseases of childhood - p. 539 40. 25. Primary ciliary dyskinesia - p. 561 41. 26. Pulmonary alveolar proteinosis - p. 577 42. 27. Respiratory and autonomic disorders of infancy, childhood, and adulthood (RADICA): Congenital Central Hypoventilation Syndrome (CCHS) and Rapid-Onset Obesity With Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation (ROHHAD) - p. 589 43. 28. Pediatric cardiomyopathies - p. 609 44. 29. Congenital/familial arrhythmia syndromes - p. 633 45. 30. Vascular and lymphatic malformations - p. 655 46. Section V. Gastrointestinal and Hepatic Disorders - p. 687 47. 31. Very early onset inflammatory bowel disease and congenital diarrheal disorders - p. 689 48. 32. Pediatric intestinal pseudo-obstruction - p. 709 49. 33. Rare inborn defects causing malabsorption - p. 725 50. 34. Genetic etiologies of neonatal and infantile cholestasis - p. 747 51. Section VI. Renal Disorders - p. 765 52. 35. Congenital nephrotic syndromes - p. 767 53. 36. Bartter and gitelman syndromes - p. 785 54. 37. Monogenic etiologies of hypertension - p. 809 55. 38. Genetic etiologies of hemolytic uremic syndrome - p. 823 56. Section VII. Endocrine Disorders - p. 839 57. 39. Autoimmune polyglandular syndromes and other disorders associated with immune-related endocrinopathies - p. 841 58. 40. Cancer predisposition syndromes in children - p. 863 59. 41. Precocious and delayed puberty - p. 885 60. 42. Monogenic diabetes: MODY and other rare genetic etiologies - p. 907 61. Section VIII. Metabolic Disorders - p. 929 62. 43. An approach to inborn errors of metabolism - p. 931 63. 44. Genetic disorders of neurotransmitters - p. 979 64. 45. Metabolic crisis with inborn errors of metabolism - p. 993 65. 46. Differentiating features of storage diseases - p. 1017 66. 47. Congenital disorders of glycosylation - p. 1047 67. 48. Mitochondrial disorders - p. 1069 68. Section IX. Hematologic Disorders - p. 1089 69. 49. Nonimmune hemolytic anemias - p. 1091 70. 50. Lymphoproliferative disorders - p. 1113 71. 51. Hereditary bone marrow failure syndromes - p. 1143 72. 52. Hereditary etiologies of thrombosis - p. 1161 73. Section X. Immune/Inflammatory Disorders - p. 1175 74. 53. When to consider a primary immune deficiency disorder: Pathogens Associated With Specific Immune Defects - p. 1177 75. 54. Primary T cell immunodeficiencies - p. 1203 76. 55. Innate defects in host defenses against infections - p. 1227 77. 56. Rare and unusual etiologies of atopic diseases (eczema, urticaria) - p. 1245 78. 57. Hereditary autoinflammatory disorders - p. 1257 79. 58. Type I interferonopathies - p. 1281 80. 59. Disorders of immune regulation - p. 1297 81. 60. Complement deficiencies - p. 1309 82. 61. Antibody deficiencies - p. 1319 83. Index - p. 1331
A new addition to the highly esteemed Nelson family of pediatric references, Nelson Pediatric Textbook of Rare Diseases: Genomic Etiologies and Genetic Diagnosis, edited by Drs. Robert Kliegman and Francesc (Paco) Palau, along with Associate Editors, Drs. Basel, Gropman, Slavotinek, Bacino, Rahman and Verbsky, provides a detailed and comprehensive guide to the diagnosis of rare disorders and the approach to undiagnosed diseases—offering in-depth content on a topic often just touched on in other pediatric textbooks. Written by the most prominent experts from around the world, this definitive text is an indispensable resource for any clinician treating pediatric patients.
1. Nelson Pediatric textbook of Rare Diseases: Genomic Etiologies and Genetic Diagnosis - p. i 2. Cover image - p. i 3. Title page - p. ii 4. Table of Contents - p. iii 5. Copyright - p. iv 6. Dedication - p. v 7. Contributors - p. vi 8. Preface - p. xvi 9. Acknowledgments - p. xvii 10. List of Illustrations - p. xviii 11. List of Tables - p. xix 12. Section I. Introductory Chapters - p. 1 13. 1. Finding the rare among the common: Diagnosis, Diagnostic Error, and When to Suspect a Rare Disease - p. 3 14. 2. Diagnostic methods: Genomics, Omics, Biomarkers, Imaging, and Other Technologies - p. 13 15. 3. The approach to rare diseases: From Local to Global - p. 41 16. Section II. Developmental Structural Disorders - p. 55 17. 4. Epigenetics, genomic imprinting, and imprinting disorders - p. 57 18. 5. Dysmorphology and phenotyping - p. 73 19. 6. Ciliary signaling and dysmorphology - p. 91 20. 7. Ciliopathies: Clinical Presentations and Syndromes - p. 101 21. 8. Mosaic overgrowth syndromes - p. 121 22. 9. Ectodermal dysplasia - p. 135 23. 10. Heritable disorders of connective tissue - p. 155 24. 11. Genetic disorders of bone - p. 207 25. Section III. Neuro-Sensory Disorders - p. 279 26. 12. Rare causes of autistic spectrum-like disorders and syndromes with autistic-like behaviors - p. 281 27. 13. Neurodegeneration with brain iron accumulation - p. 303 28. 14. Disorders of movement - p. 315 29. 15. Fever-associated seizures and epilepsies - p. 353 30. 16. Nonfebrile epilepsy syndromes including epileptic encephalopathies - p. 373 31. 17. Hereditary motor-sensory neuropathies or charcot-marie-tooth disease and related neuropathies - p. 393 32. 18. Sensory and autonomic neuropathies including familial dysautonomia and small fiber neuropathies - p. 415 33. 19. Metabolic myopathies - p. 433 34. 20. Skeletal muscle channelopathies: Periodic Paralyses and Nondystrophic Myotonias - p. 455 35. 21. Congenital blindness - p. 473 36. 22. Late-onset blindness - p. 507 37. 23. Sensorineural hearing loss - p. 529 38. Section IV. Cardiopulmonary Disorders - p. 537 39. 24. Interstitial lung diseases of childhood - p. 539 40. 25. Primary ciliary dyskinesia - p. 561 41. 26. Pulmonary alveolar proteinosis - p. 577 42. 27. Respiratory and autonomic disorders of infancy, childhood, and adulthood (RADICA): Congenital Central Hypoventilation Syndrome (CCHS) and Rapid-Onset Obesity With Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation (ROHHAD) - p. 589 43. 28. Pediatric cardiomyopathies - p. 609 44. 29. Congenital/familial arrhythmia syndromes - p. 633 45. 30. Vascular and lymphatic malformations - p. 655 46. Section V. Gastrointestinal and Hepatic Disorders - p. 687 47. 31. Very early onset inflammatory bowel disease and congenital diarrheal disorders - p. 689 48. 32. Pediatric intestinal pseudo-obstruction - p. 709 49. 33. Rare inborn defects causing malabsorption - p. 725 50. 34. Genetic etiologies of neonatal and infantile cholestasis - p. 747 51. Section VI. Renal Disorders - p. 765 52. 35. Congenital nephrotic syndromes - p. 767 53. 36. Bartter and gitelman syndromes - p. 785 54. 37. Monogenic etiologies of hypertension - p. 809 55. 38. Genetic etiologies of hemolytic uremic syndrome - p. 823 56. Section VII. Endocrine Disorders - p. 839 57. 39. Autoimmune polyglandular syndromes and other disorders associated with immune-related endocrinopathies - p. 841 58. 40. Cancer predisposition syndromes in children - p. 863 59. 41. Precocious and delayed puberty - p. 885 60. 42. Monogenic diabetes: MODY and other rare genetic etiologies - p. 907 61. Section VIII. Metabolic Disorders - p. 929 62. 43. An approach to inborn errors of metabolism - p. 931 63. 44. Genetic disorders of neurotransmitters - p. 979 64. 45. Metabolic crisis with inborn errors of metabolism - p. 993 65. 46. Differentiating features of storage diseases - p. 1017 66. 47. Congenital disorders of glycosylation - p. 1047 67. 48. Mitochondrial disorders - p. 1069 68. Section IX. Hematologic Disorders - p. 1089 69. 49. Nonimmune hemolytic anemias - p. 1091 70. 50. Lymphoproliferative disorders - p. 1113 71. 51. Hereditary bone marrow failure syndromes - p. 1143 72. 52. Hereditary etiologies of thrombosis - p. 1161 73. Section X. Immune/Inflammatory Disorders - p. 1175 74. 53. When to consider a primary immune deficiency disorder: Pathogens Associated With Specific Immune Defects - p. 1177 75. 54. Primary T cell immunodeficiencies - p. 1203 76. 55. Innate defects in host defenses against infections - p. 1227 77. 56. Rare and unusual etiologies of atopic diseases (eczema, urticaria) - p. 1245 78. 57. Hereditary autoinflammatory disorders - p. 1257 79. 58. Type I interferonopathies - p. 1281 80. 59. Disorders of immune regulation - p. 1297 81. 60. Complement deficiencies - p. 1309 82. 61. Antibody deficiencies - p. 1319 83. Index - p. 1331
