Table of Contents

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   Book Overview
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   Chapter 1 Acardia
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   Chapter 2 Achondrogenesis
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   Chapter 3 Achondroplasia
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   Chapter 4 Adams-Oliver Syndrome
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   Chapter 5 Agnathia
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   Chapter 6 Aicardi Syndrome
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   Chapter 7 Alagille Syndrome
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   Chapter 8 Albinism
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    Chapter 9 Alpha-Thalassemia X-Linked Mental Retardation Syndrome
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    Chapter 10 Ambiguous Genitalia
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    Chapter 11 Amniotic Deformity, Adhesions, Mutilations (ADAM) Complex
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    Chapter 12 Androgen Insensitivity Syndrome
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    Chapter 13 Angelman Syndrome
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    Chapter 14 Apert Syndrome
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    Chapter 15 Aplasia Cutis Congenita
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    Chapter 16 Arthrogryposis Multiplex Congenita
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    Chapter 17 Asphyxiating Thoracic Dystrophy
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    Chapter 18 Ataxia-Telangiectasia
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    Chapter 19 Atelosteogenesis
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    Chapter 20 Autism
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    Chapter 21 Bannayan-Riley-Ruvalcaba Syndrome
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    Chapter 22 Beckwith-Wiedemann Syndrome
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    Chapter 23 Behçet Disease
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    Chapter 24 Biotinidase Deficiency
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    Chapter 25 Bladder Exstrophy
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    Chapter 26 Blepharophimosis, Ptosis, and Epicanthus Inversus Syndrome
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    Chapter 27 Body Stalk Anomaly
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    Chapter 28 Brachydactyly
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    Chapter 29 Branchial Cleft Anomalies
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    Chapter 31 Campomelic Dysplasia
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    Chapter 32 Carpenter Syndrome
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    Chapter 33 Cat Eye Syndrome
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    Chapter 34 Celiac Disease
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    Chapter 36 Cerebrocostomandibular Syndrome
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    Chapter 37 Charcot-Marie-Tooth Disease
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    Chapter 39 Cherubism
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    Chapter 40 Chiari Malformation
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    Chapter 41 Chondrodysplasia Punctata
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    Chapter 43 Cleft Lip and/or Cleft Palate
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    Chapter 44 Cleidocranial Dysplasia
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    Chapter 45 Cloacal Exstrophy
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    Chapter 46 Clubfoot
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    Chapter 47 Collodion Baby
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    Chapter 49 Congenital Cutis Laxa
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    Chapter 52 Congenital Hemihyperplasia
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    Chapter 53 Congenital Hydrocephalus
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    Chapter 54 Congenital Hypothyroidism
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    Chapter 55 Congenital Muscular Dystrophy
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    Chapter 56 Congenital Toxoplasmosis
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    Chapter 57 Conjoined Twins
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    Chapter 58 Corpus Callosum Agenesis/Dysgenesis
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    Chapter 59 Craniometaphyseal Dysplasia
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    Chapter 60 Cri-Du-Chat Syndrome
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    Chapter 61 Crouzon Syndrome
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    Chapter 62 Cutis Marmorata Telangiectatica Congenita
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    Chapter 63 Cystic Fibrosis
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    Chapter 64 Dandy–Walker Malformation
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    Chapter 65 De Lange Syndrome
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    Chapter 66 Del(18p) Syndrome
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    Chapter 67 Del(22q11.2) Syndrome
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    Chapter 68 Del(Yq) Syndrome
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    Chapter 69 Diabetic Embryopathy
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    Chapter 70 Down Syndrome
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    Chapter 71 Duncan Syndrome
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    Chapter 72 Dyschondrosteosis
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    Chapter 73 Dysmelia
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    Chapter 74 Dysplasia Epiphysealis Hemimelica
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    Chapter 75 Dystonia
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    Chapter 76 Dystrophinopathies
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    Chapter 77 Ectrodactyly-Ectodermal Dysplasia-Clefting (EEC) Syndrome
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    Chapter 78 Ehlers-Danlos Syndrome
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    Chapter 79 Ellis-van Creveld Syndrome
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    Chapter 80 Enchondromatosis
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    Chapter 81 Epidermolysis Bullosa
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    Chapter 82 Epidermolytic Palmoplantar Keratoderma
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    Chapter 83 Faciogenital (Faciodigitogenital) Dysplasia
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    Chapter 84 Facioscapulohumeral Muscular Dystrophy
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    Chapter 85 Familial Adenomatous Polyposis
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    Chapter 86 Familial Hyperlysinemia
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    Chapter 87 Familial Mediterranean Fever
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    Chapter 88 Fanconi Anemia
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    Chapter 89 Femoral Hypoplasia: Unusual Facies Syndrome
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    Chapter 90 Fetal Akinesia Deformation Sequence
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    Chapter 92 Fetal Hydantoin Syndrome
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    Chapter 93 Fibrodysplasia Ossificans Progressiva
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    Chapter 94 Finlay-Marks Syndrome
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    Chapter 95 Floppy Infant
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    Chapter 96 Fragile X Syndrome
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    Chapter 97 Fraser Syndrome
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    Chapter 98 Freeman-Sheldon Syndrome
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    Chapter 99 Friedreich Ataxia
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    Chapter 100 Frontonasal Dysplasia
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    Chapter 101 Galactosemia
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    Chapter 102 Gastroschisis
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    Chapter 103 Gaucher Disease
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    Chapter 104 Generalized Arterial Calcification of Infancy
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    Chapter 105 Genitopatellar Syndrome
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    Chapter 106 Giant Congenital Melanocytic Nevi
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     Chapter 107 Glucose-6-Phosphate Dehydrogenase Deficiency
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     Chapter 109 Goldenhar Syndrome
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     Chapter 110 Gorlin Syndrome
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     Chapter 111 Greig Cephalopolysyndactyly Syndrome
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     Chapter 112 Hallermann-Streiff Syndrome
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     Chapter 113 Harlequin Ichthyosis
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     Chapter 114 Hemophilia A
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     Chapter 115 Hereditary Hearing Loss
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     Chapter 117 Hereditary Multiple Exostoses
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     Chapter 118 Herlyn-Werner-Wunderlich Syndrome
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     Chapter 119 Holoprosencephaly
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     Chapter 120 Holt-Oram Syndrome
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     Chapter 121 Huntington Disease
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     Chapter 122 Hydrolethalus Syndrome
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     Chapter 123 Hydrops Fetalis
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     Chapter 124 Hyper-IgE Syndrome
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     Chapter 125 Hypochondroplasia
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     Chapter 126 Hypoglossia-Hypodactylia Syndrome
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     Chapter 127 Hypohidrotic Ectodermal Dysplasia
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     Chapter 128 Hypomelanosis of Ito
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     Chapter 129 Hypophosphatasia
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     Chapter 131 I(1p), I(1q) Syndrome
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     Chapter 132 Idic(Yq) Syndrome
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     Chapter 133 Incontinentia Pigmenti
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     Chapter 134 Infantile Myofibromatosis
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     Chapter 136 Jarcho-Levin Syndrome
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     Chapter 137 Joubert Syndrome
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     Chapter 138 Kabuki Syndrome
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     Chapter 139 Kasabach–Merritt Syndrome
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     Chapter 140 KID Syndrome
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     Chapter 141 Klinefelter Syndrome
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     Chapter 142 Klippel-Feil Syndrome
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     Chapter 143 Klippel-Trenaunay Syndrome
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     Chapter 144 Kniest Dysplasia
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     Chapter 145 Larsen Syndrome
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     Chapter 146 LEOPARD Syndrome
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     Chapter 147 Lesch-Nyhan Syndrome
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     Chapter 148 Lethal Multiple Pterygium Syndrome
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     Chapter 149 Loeys-Dietz Syndrome
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     Chapter 150 Lowe Syndrome
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     Chapter 151 Marfan Syndrome
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     Chapter 152 McCune-Albright Syndrome
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     Chapter 153 Meckel-Gruber Syndrome
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     Chapter 154 Megalencephalic Leukoencephalopathy with Subcortical Cysts
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     Chapter 155 Menkes Disease
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     Chapter 156 Metachromatic Leukodystrophy
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     Chapter 157 Miller-Dieker Syndrome
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     Chapter 158 Mitochondrial Leber Hereditary Optic Neuropathy
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     Chapter 159 Möbius Syndrome
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     Chapter 160 Mowat-Wilson Syndrome
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     Chapter 161 Mucopolysaccharidosis I (MPS I)
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     Chapter 163 Mucopolysaccharidosis 3
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     Chapter 166 Mucolipidosis 2
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     Chapter 167 Mucolipidosis 3
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     Chapter 169 Multiple Epiphyseal Dysplasia
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     Chapter 170 Multiple Pterygium Syndrome
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     Chapter 171 Myotonic Dystrophy Type 1
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     Chapter 172 Nail-Patella Syndrome
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     Chapter 174 Nephrogenic Diabetes Insipidus
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     Chapter 175 Netherton Syndrome
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     Chapter 176 Neu-Laxova Syndrome
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     Chapter 177 Neural Tube Defects
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     Chapter 178 Neurofibromatosis 1
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     Chapter 179 Neurofibromatosis 2
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     Chapter 180 Noonan Syndrome
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     Chapter 181 Oblique Facial Cleft Syndrome
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     Chapter 182 Oligohydramnios Sequence
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     Chapter 183 Omphalocele
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     Chapter 184 Oral-Facial-Digital Syndrome
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     Chapter 185 Osteogenesis Imperfecta
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     Chapter 186 Osteopetrosis
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     Chapter 187 Osteopoikilosis
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     Chapter 188 Otopalatodigital Spectrum Disorders
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     Chapter 189 Pachyonychia Congenita
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     Chapter 190 Pallister–Killian Syndrome
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     Chapter 192 Pierre Robin Sequence
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     Chapter 193 Polycystic Kidney Disease: Autosomal Dominant Type
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     Chapter 194 Polycystic Kidney Disease: Autosomal Recessive Type
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     Chapter 195 Popliteal Pterygium Syndrome
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     Chapter 196 Prader-Willi Syndrome
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     Chapter 197 Progeria
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     Chapter 198 Prune Belly Syndrome
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     Chapter 199 Pseudoachondroplasia
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     Chapter 200 R(18) Syndrome
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     Chapter 201 Retinoid Embryopathy
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     Chapter 202 Rett Syndrome
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     Chapter 203 Rickets
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     Chapter 204 Rigid Spine Syndrome
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     Chapter 205 Roberts Syndrome
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     Chapter 206 Robinow Syndrome
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     Chapter 207 Rubinstein-Taybi Syndrome
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     Chapter 208 Saethre-Chotzen Syndrome
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     Chapter 209 Sagittal Craniosynostosis Associated with Chromosome Abnormalities with a Brief Review on Craniosynostosis
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     Chapter 210 Schizencephaly
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     Chapter 211 Schmid Metaphyseal Chondrodysplasia
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     Chapter 212 Seckel Syndrome
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     Chapter 213 Severe Combined Immune Deficiency
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     Chapter 214 Short-Rib Polydactyly Syndromes
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     Chapter 215 Sickle Cell Disease
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     Chapter 216 Silver–Russell Syndrome
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     Chapter 217 Sirenomelia
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     Chapter 218 Smith–Lemli–Opitz Syndrome
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     Chapter 219 Smith-Magenis Syndrome
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     Chapter 221 Spinal Muscular Atrophy
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     Chapter 223 Stickler Syndrome
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     Chapter 224 Sturge-Weber Syndrome
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     Chapter 225 Tay-Sachs Disease
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     Chapter 226 Tetrasomy 9p Syndrome
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     Chapter 227 Thalassemia
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     Chapter 228 Thanatophoric Dysplasia
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     Chapter 229 Thrombocytopenia-Absent Radius Syndrome
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     Chapter 231 Trimethylaminuria
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     Chapter 232 Triploidy
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     Chapter 233 Trismus-Pseudocamptodactyly Syndrome
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     Chapter 235 Trisomy 13 Syndrome
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     Chapter 236 Trisomy 18 Syndrome
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     Chapter 237 Tuberous Sclerosis
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     Chapter 238 Turner Syndrome
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     Chapter 239 Twin-Twin Transfusion Syndrome
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     Chapter 240 Ulnar-Mammary Syndrome
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     Chapter 241 Urofacial Syndrome
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     Chapter 242 VATER (VACTERL) Association
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     Chapter 243 Von Hippel-Lindau Disease
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     Chapter 244 Waardenburg Syndrome
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     Chapter 245 Weill-Marchesani Syndrome
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     Chapter 246 Williams Syndrome
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     Chapter 247 Wolf–Hirschhorn Syndrome
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     Chapter 248 X-Linked Agammaglobulinemia
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     Chapter 251 XXX Syndrome
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     Chapter 252 XXXXX Syndrome
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     Chapter 253 XXXXY Syndrome
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     Chapter 254 XY Female
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     Chapter 255 XYY Syndrome
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     Chapter 256 Cutaneous Vasculitis
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     Chapter 257 Patellar Instability
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     Chapter 258 Feingold Syndrome
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     Chapter 259 Fibular Hemimelia
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     Chapter 260 Hemangiomas of Infancy
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     Chapter 261 Hereditary Sensory and Autonomic Neuropathies
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     Chapter 263 Lymphangiomas and Lymphangiomatosis
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     Chapter 264 Opitz Trigonocephaly Syndrome
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     Chapter 265 Osteogenesis Imperfecta/Ehlers-Danlos Syndrome Overlap Syndrome
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     Chapter 266 Nager Acrofacial Dysostosis
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     Chapter 267 Nasal Obstruction in Neonates and Children
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     Chapter 268 Primary Microcephaly
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     Chapter 269 Congenital Radioulnar Synostosis
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     Chapter 270 Symphalangism
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     Chapter 272 Hereditary Spastic Paraplegia
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     Chapter 273 Gilbert Syndrome
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     Chapter 274 Isolated Growth Hormone Deficiency in Children
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     Chapter 275 Hypertrophic Cardiomyopathy
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     Chapter 276 Peutz-Jeghers Syndrome
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     Chapter 277 Niemann-Pick Disease
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     Chapter 278 Macrodactyly
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     Chapter 279 Tyrosinemias
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     Chapter 281 Tibial Hemimelia
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     Chapter 282 Congenital Infiltrating Lipomatosis of the Face
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     Chapter 284 Schwartz-Jampel Syndrome