Congenital Diseases and Syndromes
An Illustrated Radiological Guide
Bearbeitet von Jarrah Ali Al-Tubaikh, Maximilian F Reiser
1. Auflage 2009. Buch. xvii, 201 S. Hardcover ISBN 978 3 642 00159 8 Format (B x L): 20,3 x 27,6 cm Gewicht: 763 g
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1 The CNS ...... 1 1.1 Anencephaly (Acrania)...... 2 1.2 Encephalocele...... 3 1.3 Holoprosencephaly ...... 5 1.4 Hydranencephaly ...... 8 1.5 Schizencephaly ...... 10 1.6 Septo-optic Dysplasia (de Morsier Syndrome) ...... 12 1.7 Corpus Callosum Dysgenesis ...... 13 1.8 Gyral Abnormalities ...... 15 1.9 Gray Matter Heterotopias ...... 18 1.10 Arnold-Chiari Malformations...... 20 1.11 Dandy-Walker Malformation ...... 23 1.12 Cavum Septum Pellucidum and Cavum Vergae ...... 26 1.13 Fahr Disease ...... 28 1.14 Menkes and Wilson Diseases ...... 30 1.15 Cerebellar Anomalies ...... 32 2 The Head and Neck ...... 35 2.1 Eagle Syndrome ...... 36 2.2 Hyperostosis Frontalis Interna ...... 37 2.3 Craniofacial Fibrous Dysplasia and Its Anomalies...... 38 2.4 Gardner Syndrome ...... 41 2.5 Choanal Atresia ...... 42 2.6 Congenital Cystic Lesions of the Head and Neck ...... 43 2.7 External Auditory Canal Atresia ...... 49 2.8 Congenital Anomalies of the Internal Ear (Congenital Hearing Loss) ...... 50 2.9 Hearing Loss Syndromes ...... 53 2.10 Petrous Bone Vascular Anomalies ...... 56 2.11 Orbital Anomalies...... 59 2.12 Congenital Cholesteatoma ...... 64 3 The Chest and Heart ...... 67 3.1 Azygos Fissure ...... 68 3.2 Scimitar Syndrome (Hypogenic Lung Syndrome) ...... 69 3.3 Horseshoe Lung ...... 71
xi xii Contents
3.4 Poland Syndrome ...... 73 3.5 Bronchiectasis...... 74 3.6 Osler-Weber-Rendu Syndrome (Hereditary Hemorrhagic Telangiectasia) ...... 76 3.7 Aortic Arch Anomalies...... 78 3.8 Coronary Artery Anomalies ...... 83 3.9 Rare Congenital Heart Anomalies ...... 88 4 The Abdomen and Pelvis...... 95 4.1 Heterotaxy Syndromes ...... 96 4.2 Chilaiditi Syndrome ...... 98 4.3 Meckel Diverticulum ...... 99 4.4 Duodenal and Jejunoileal Atresias ...... 101 4.5 Budd-Chiari Syndrome...... 102 4.6 Cruveilhier-Baumgarten Syndrome ...... 104 4.7 Choledochal Cyst and Caroli Disease...... 108 4.8 Mirizzi Syndrome ...... 110 4.9 Congenital Anomalies of the Spleen ...... 111 4.10 Anomalies of the Inferior Vena Cava ...... 113 4.11 Congenital Anomalies of the Kidneys ...... 117 4.12 Congenital Uterine Malformations...... 121 4.13 Retrocaval Ureter ...... 125 4.14 Hematocolpos ...... 127 4.15 Alagille Syndrome (Arteriohepatic Dysplasia) ...... 129 5 The Musculoskeletal System ...... 131 5.1 Basic Concepts in Bone Dysplasias ...... 132 5.2 Congenital Radioulnar Synostosis ...... 139 5.3 Klippel-Feil Syndrome (Blocked Cervical Vertebrae) ...... 140 5.4 Spinal Dysraphism ...... 142 5.5 Vertebral Clefts...... 145 5.6 Arcuate Foramen (Kimmerle Anomaly)...... 147 5.7 Supracondylar Process of the Humerus ...... 148 5.8 Tarsal Coalition...... 149 5.9 Paget Disease (Ostitis Deformans) ...... 151 5.10 Osteopetrosis (Albers-Schönburg Disease/Marble Bone Disease)...... 153 5.11 Mucopolysaccharidosis...... 156 5.12 Ollier Disease and Maffucci Syndrome ...... 159 5.13 Osteogenesis Imperfecta...... 161 5.14 Caudal Regression Syndrome and Sirenomelia (Mermaid Syndrome) ...... 163 5.15 Ellis-van Creveld Syndrome (Chondroectodermal Dysplasia). . . . . 165 5.16 SAPHO Syndrome (Anterior Chest Wall Syndrome)...... 166 5.17 Fong Disease and Nail-Patella Syndrome ...... 168 5.18 Progeria (Hutchinson-Gilford Syndrome) ...... 169 5.19 Tarlov Cyst ...... 171 5.20 Madelung Deformity and Dyschondrosteosis (Léri-Weill Syndrome) ...... 173 Contents xiii
6 Phakomatoses (Neurocutaneous Syndromes) ...... 175 6.1 Neurofi bromatosis...... 176 6.2 Sturge-Weber Syndrome (Encephalotrigeminal Angiomatosis). . . . 180 6.3 Tuberous Sclerosis (Bourneville-Pringle Disease) ...... 182 6.4 Neurocutaneous Melanosis...... 185 6.5 PHACE Syndrome ...... 187 6.6 Von Hippel-Lindau Syndrome ...... 189 6.7 Cowden Syndrome (Multiple Hamartoma-Neoplasia Syndrome) ...... 191 6.8 Gorlin Syndrome (Basal Nevus Cell Carcinoma Syndrome) ...... 193 6.9 Wyburn-Mason Syndrome ...... 194 Index ...... 197