Nelson Pediatric Textbook of Rare Diseases - E-BOOK, 1st Edition

Section I Introductory Chapters
1 Finding the Rare Among the Common: Diagnosis, Diagnostic Error, and When to Suspect a Rare Disease
2 Diagnostic Methods: Genomics, Omics, Biomarkers, Imaging, and Other Technologies
3 The Approach to Rare Diseases: From Local to Global

Section II Developmental Structural Disorders
4 Epigenetics, Genomic Imprinting, and Imprinting Disorders
5 Dysmorphology and Phenotyping
6 Ciliary Signaling and Dysmorphology
7 Ciliopathies: Clinical Presentations and Syndromes
8 Mosaic Overgrowth Syndromes
9 Ectodermal Dysplasia
10 Heritable Disorders of Connective Tissue
11 Genetic Disorders of Bone

Section III Neuro-Sensory Disorders
12 Rare Causes of Autistic Spectrum-Like Disorders and Syndromes With Autistic-Like Behaviors
13 Neurodegeneration With Brain Iron Accumulation
14 Disorders of Movement
15 Fever-Associated Seizures and Epilepsies
16 Nonfebrile Epilepsy Syndromes Including Epileptic Encephalopathies
17 Hereditary Motor-Sensory Neuropathies or Charcot-Marie-Tooth Disease and Related Neuropathies
18 Sensory and Autonomic Neuropathies Including Familial Dysautonomia and Small Fiber Neuropathies
19 Metabolic Myopathies
20 Skeletal Muscle Channelopathies: Periodic Paralyses and Nondystrophic Myotonias
21 Congenital Blindness
22 Late-Onset Blindness
23 Sensorineural Hearing Loss

Section IV Cardiopulmonary Disorders
24 Interstitial Lung Diseases of Childhood
25 Primary Ciliary Dyskinesia
26 Pulmonary Alveolar Proteinosis
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)
28 Pediatric Cardiomyopathies
29 Congenital/Familial Arrhythmia Syndromes
30 Vascular and Lymphatic Malformations

Section V Gastrointestinal and Hepatic Disorders
31 Very Early Onset Inflammatory Bowel Disease and Congenital Diarrheal Disorders
32 Pediatric Intestinal Pseudo-Obstruction
33 Rare Inborn Defects Causing Malabsorption
34 Genetic Etiologies of Neonatal and Infantile Cholestasis

Section VI Renal Disorders
35 Congenital Nephrotic Syndromes
36 Bartter and Gitelman Syndromes
37 Monogenic Etiologies of Hypertension
38 Genetic Etiologies of Hemolytic Uremic Syndrome

Section VII Endocrine Disorders
39 Autoimmune Polyglandular Syndromes and Other Disorders Associated With Immune-Related Endocrinopathies
40 Cancer Predisposition Syndromes in Children
41 Precocious and Delayed Puberty
42 Monogenic Diabetes: MODY and Other Rare Genetic Etiologies

Section VIII Metabolic Disorders
43 An Approach to Inborn Errors of Metabolism
44 Genetic Disorders of Neurotransmitters
45 Metabolic Crisis With Inborn Errors of Metabolism
46 Differentiating Features of Storage Diseases
47 Congenital Disorders of Glycosylation
48 Mitochondrial Disorders

Section IX Hematologic Disorders
49 Nonimmune Hemolytic Anemias
50 Lymphoproliferative Disorders
51 Hereditary Bone Marrow Failure Syndromes
52 Hereditary Etiologies of Thrombosis

Section X Immune/Inflammatory Disorders
53 When to Consider a Primary Immune Deficiency Disorder: Pathogens Associated With Specific Immune Defects
54 Primary T Cell Immunodeficiencies
55 Innate Defects in Host Defenses Against Infections
56 Rare and Unusual Etiologies of Atopic Diseases (Eczema, Urticaria)
57 Hereditary Autoinflammatory Disorders
58 Type I Interferonopathies
59 Disorders of Immune Regulation
60 Complement Deficiencies
61 Antibody Deficiencies

Index