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Atlas of Genetic Diagnosis and Counseling

Overview of attention for book
Atlas of Genetic Diagnosis and Counseling
Springer New York

Table of Contents

  1. Altmetric Badge
    Book Overview
  2. Altmetric Badge
    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
Attention for Chapter 72: Dyschondrosteosis
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