Encyclopedia of Pediatric Rare Diseases

This book presents recent advances and international cutting-edge knowledge of rare diseases in pediatric patients, including chromosome abnormalities and syndromes characterized by growth failure, special face features, organ or gonad malformation, abnormal hormone secretion, hereditary metabolic diseases, abnormal integumentary system and immune system and arrhythmia. The epidemiology, genetics, pathogenesis, clinical manifestation, laboratory examination, diagnosis and differential diagnosis, treatment, genetic counselling, prevention and prognosis of each disease were described in details, followed by illustrations of phenotypic characteristics, respectively. Written by pediatrician with wealthy of clinical experience, this book will be a practical reference to pediatrician and endocrinologists, as well as those who are interested in related field.

Presents recent advances and international cutting-edge knowledge of pediatric rare diseases Describes genetics, clinical manifestation, treatment, and prognosis of each rare disease in details Practical reference for pediatrician and endocrinologists in pediatric rare diseases

Autorentext

Chunxiu Gong is a Professor and Director at Department of Endocrinology, Genetics and Metabolism, Beijing Children's Hospital, Capital Medical University, Beijing, China.

Inhalt

Part 1. Syndromes characterized by abnormal growth.- Chapter 1 Cornelia de Lange Syndrome.- Chapter 2 Rubinstein-Taybi Syndrome.- Chapter 3 Sliver-Rusell Syndrome.- Chapter 4 SHORT Syndrome.- Chapter 5 3M Syndrome.- Chapter 6 Bloom Syndrome.- Chapter 7 Seckel Syndrome.- Chapter 8 Smith-Lemli-Opitz Syndrome.- Chapter 9 Kabuki Syndrome.- Chapter 10 Noonan Syndrome.- Chapter 11 Costello Syndrome.- Chapter 12 Cadio-facio-cutaneous Syndrome.- Chapter 13 Aarskog-Scott Syndrome.- Chapter 14 Floating-Harbor Syndrome.- Chapter 15 Focal dermal hypoplasia.- Chapter 16 Wolf-Hirschhorn Syndrome.- Chapter 17 Achondroplasia.- Chapter 18 Beckwith-Wiedemann Syndrome.- Chapter 19 Williams Syndrome.- Chapter 20 Bainbridge-Ropers Syndrome.- Chapter 21 Bruck Syndrome.- Chapter 22 DNA ligase IV deficiency.- Chapter 23 Ellis-van Creveld Syndrome.- Chapter 24 Kenny-Caffey Syndrome.- Chapter 25 Wiedemann-Steiner Syndrome.- Chapter 26 Branchio otorenal Syndrome.- Chapter 27 Cowden Syndrome.- Chapter 28 Kleefstra Syndrome.- Chapter 29 Marfan Syndrome.- Chapter 30 Xia-Gibbs Syndrome.- Chapter 31 Acrodysostosis II.- Chapter 32 MIRAGE Syndrome.- Chapter 33 Helsmoortel-Van der Aa Syndrome.- Chapter 34 Schwartz-Jampel Syndrome.- Chapter 35 Meier-Gorlin Syndrome.- Chapter 36 Simpson-Golabi-Behmel Syndrome I.- Chapter 37 Cleidocranial dysplasia.- Chapter 38 Angelman syndrome.- Chapter 39 Temple syndrome.- Chapter 40 Oculoskeletodental syndrome.- Chapter 41 SOFT Syndrome.- Chapter 42 Ulnar-Mammary Syndrome.- Chapter 43 Weaver Syndrome.- Part 2. Syndromes characterized by facial abnormalities.- Chapter 44 Rothmund-Thomson Syndrome.- Chapter 45 Craniofrontalnasal Syndrome.- Chapter 46 Crouzon Syndrome.- Chapter 47 DiGeorge Syndrome.- Chapter 48 Asymmetric crying facies.- Chapter 49 KBG Syndrome.- Chapter 50 Antley-Bixler Syndrome.- Chapter 51 Donohue Syndrome.- Chapter 52 Solitary median maxillary central incisor.- Chapter 53 Malan Syndrome.- Chapter 54 Miller-Dieker Syndrome.- Chapter 55 Hajdu-Cheney Syndrome.- Chapter 56 Tricho-rhino-phalangeal syndrome.- Chapter 57 COFFIN-SIRIS syndrome.- Chapter 58 Schuurs-Hoeijmakers syndrome.- Chapter 59 BARAITSER-WINTER syndrome.- Chapter 60 Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies.- Part 3 Syndromes characterized by obesity or diabetes.- Chapter 61 Prader-Willi Syndrome.- Chapter 62 Mitchell-Riley Syndrome.- Chapter 63 Wolcott-Rallison Syndrome.- Chapter 64 Wolfram Syndrome.- Chapter 65 Alström Syndrome.- Chapter 66 Mehmocortin-4 receptor deficiency.- Part 4. Syndromes associated with abnormal hormone secretion.- Chapter 67 Allgrove Syndrome.- Chapter 68 Pseudoaldosteronism type I.- Chapter 69 Pseudohypoparathyroidism.- Chapter 70 Familial glucocorticoid deficiency.- Chapter 71 Isolatedadren ocorticotropic hormone deficiency.- Chapter 72 Inherited vitamin D deficiency rickets type III.- Chapter 73 Thyroid dyshormonogenesis 2A.- Chapter 74 Brain-lung-thyroid Syndrome.- Chapter 75 Inherited thyroxine-binding globulin deficiency.- Chapter 76 Nephrogenic syndrome of inappropriate antidiuresis.- Chapter 77 Pendred Syndrome.- Chapter 78 Congenital generalized lipodystrophy.- Chapter 79 Congenital hyperinsulinemiac.- Chapter 80 Hypoparathyroidism-Sensorineural hearing loss-Renal disease syndrome.- Chapter 81 Allan-Herndon-dudley syndrome.- Chapter 82 Van WykGrumbach syndrome.- Chapter 83 Resistance to thyroid hormone syndrome.- Part 5 Syndromes associated with gonadal abnormality.- Chapter 84 Klinefelter Syndrome.- Chapter 85 Turner Syndrome.- Chapter 86 Familial male-limited precocious puberty.- Chapter 87 17- hydroxylase/17, 20-lyase deficiency.- Chapter 88 CHARGE Syndrome.- Chapter 89 Mc-Cune Albright Syndrome.- Chapter 90 Persistent Mullerian duct Syndrome.- Chapter 91 Swyer Syndrome.- Chapter 92 Congenital hypogonadotropic hypogonadism.- Chapter 93 CAH-11hydroxylase.- Chapter 94 CAH-21 hydroxylase.- Chapter 95 Androgen Insensitivity Syndrome.- Chapter 96 5reductase type 2 deficiency.- Chapter 97 Disorder of sex development with NR5A1 gene mutation.- Part 6 Hereditary metabolic diseases.- Chapter 98 Batter Syndrome.- Chapter 99 Gitleman Syndrome.- Chapter 100 Cystinosis.- Chapter 101 Hepatolenticular degeneration.- Chapter 102 Hypophosphatemic ricke.- Chapter 103 Sitosterolemia.- Chapter 104 Congenital disorder of glycosylation type Ia.- Chapter 105 Mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency.- Chapter 106 Mucolipidosis type II.- Chapter 107 Primary carnitine deficiency.- Chapter 108 Mucopolysaccharidosis type II.- Chapter 109 Danon Disease.- Chapter 110 Barth syndrome.- Chapter 111 Cardiac amyloidosis.- Chapter 112 Pompe Disease.- Chapter 113 Inherited Hypomagnesemia.- Chapter 114 Galactosemia.- Chapter 115 Glutaric acidemia type 1.- Chapter 116 Familial hyperlipidemia.- Chapter 117 Fructose 1,6 Diphosphatase Deficiency.- Part 7 Syndromes characterized by abnormal integumentary system and.- immune system.- Chapter 118 CANDLE Syndrome.- Chapter 119 Chediak-Higashi Syndrome.- Chapter 120 Chronic granulomatous disease.- Chapter 121 Congenital erythropoietic porphyria.- Chapter 122 Ichthyosis follicularis, alopecia and photophobia Syndrome.- Chapter 123 HutchinsonGilford progeria Syndrome.- Chapter 124 Hyper-IgE Syndrome.- Chapter 125 Blue rubber blebnevus Syndrome.- Chapter 126 Proteus Syndrome.- Chapter 127 CHILD Syndrome.- Chapter 128 IPEX Syndrome.- Chapter 129 Axenfeld-Rieger Syndrome.- Chapter 130 Blau Syndrome.- Chapter 131 Leber hereditary optic neuropathy.- Chapter 132 Congenital nasolacrimal canal dysplasia.- Chapter 133 Retinoblastoma.- Chapter 134 Familial progressive hyperpigmentation and hypopigmentation.- Chapter 135 Cutis laxa.- Part 8 Hereditary arrhythmia.- Chapter 136 Arrhythmogenic right ventricular cardiomyopathy.- Chapter 137 Brugada Syndrome.- Chapter 138 Catecholamine sensitive polymorphic ventricular tachycardia.- Chapter 139 Long QT Syndrome.- Chapter 140 Short QT Syndrome.