Congenital Diseases and Syndromes

An Illustrated Radiological Guide
1. Auflage 2009
ISBN: 978-3-642-00160-4
Verlag: Springer
Format: PDF
Kopierschutz: Adobe DRM (»Systemvoraussetzungen)

E-Book, Englisch, 201 Seiten

Radiology to me is an art more than a science; an art of imaging the human body, and an art of extracting information from an image. Radiology today is a vital specialty that almost no other medical specialty can work without. Congenital anomalies and syndromes are complex subjects in all medical specialties. They require knowledge of the normal anatomy and of the embryological basis of organogenesis. The importance of recognizing a congenital malformation or an anomaly, which can be the tip of an iceberg of a more complex syndrome, is to prevent future manifestations of a s- drome if possible or to reduce its severity. Due to this concept, I had an interest in studying how to use the radiological modalities in diagnosing congenital malfor- tions as early as possible. Although radiology offers very powerful tools for diag- sis, the basics of medicine are still the main tools to be used for diagnosis. History, observation, clinical examination, and laboratory investigations are essential elements for diagnosis, which need to be used before radiology investigations are initiated. The idea of this book is based on a simple principle: it is to link radiology to these basic medical tools. The book is written for junior radiologists, radiology students, and doctors interested in congenital malformations and syndromes in any specialty. Each disease is represented with a de? nition, description, etiology, diagnostic cri- ria, main symptoms, and its typical diagnostic radiological features on the modern radiological modalities available today.

Autoren/Hrsg.

Inhaltsverzeichnis

1;Preface;6
2;Acknowledgments;8
3;Contents;9
4;Contributors;12
5;Abbreviations;13
6;Chapter 1 The CNS;14
6.1;1.1 Anencephaly (Acrania);15
6.2;1.2 Encephalocele;16
6.3;1.3 Holoprosencephaly;18
6.4;1.4 Hydranencephaly;21
6.5;1.5 Schizencephaly;23
6.6;1.6 Septo-optic Dysplasia (de Morsier Syndrome);25
6.7;1.7 Corpus Callosum Dysgenesis;26
6.8;1.8 Gyral Abnormalities;28
6.9;1.9 Gray Matter Heterotopias;31
6.10;1.10 Arnold-Chiari Malformations;33
6.11;1.11 Dandy-Walker Malformation;36
6.12;1.12 Cavum Septum Pellucidum and Cavum Vergae;39
6.13;1.13 Fahr Disease;41
6.14;1.14 Menkes and Wilson Diseases;43
6.15;1.15 Cerebellar Anomalies;45
7;Chapter 2 The Head and Neck;47
7.1;2.1 Eagle Syndrome;48
7.2;2.2 Hyperostosis Frontalis Interna;49
7.3;2.3 Craniofacial Fibrous Dysplasia and Its Anomalies;50
7.4;2.4 Gardner Syndrome;53
7.5;2.5 Choanal Atresia;54
7.6;2.6 Congenital Cystic Lesions of the Head and Neck;55
7.7;2.7 External Auditory Canal Atresia;61
7.8;2.8 Congenital Anomalies of the Internal Ear (Congenital Hearing Loss);62
7.9;2.9 Hearing Loss Syndromes;65
7.10;2.10 Petrous Bone Vascular Anomalies;68
7.11;2.11 Orbital Anomalies;71
7.12;2.12 Congenital Cholesteatoma;76
8;Chapter 3 The Chest and Heart;78
8.1;3.1 Azygos Fissure;79
8.2;3.2 Scimitar Syndrome (Hypogenic Lung Syndrome);80
8.3;3.3 Horseshoe Lung;82
8.4;3.4 Poland Syndrome;84
8.5;3.5 Bronchiectasis;85
8.6;3.6 Osler-Weber-Rendu Syndrome (Hereditary Hemorrhagic Telangiectasia);87
8.7;3.7 Aortic Arch Anomalies;89
8.8;3.8 Coronary Artery Anomalies;94
8.9;3.9 Rare Congenital Heart Anomalies;99
9;Chapter 4 The Abdomen and Pelvis;106
9.1;4.1 Heterotaxy Syndromes;107
9.2;4.2 Chilaiditi Syndrome;109
9.3;4.3 Meckel Diverticulum;110
9.4;4.4 Duodenal and Jejunoileal Atresias;112
9.5;4.5 Budd-Chiari Syndrome;113
9.6;4.6 Cruveilhier-Baumgarten Syndrome;115
9.7;4.7 Choledochal Cyst and Caroli Disease;119
9.8;4.8 Mirizzi Syndrome;121
9.9;4.9 Congenital Anomalies of the Spleen;122
9.10;4.10 Anomalies of the Inferior Vena Cava;124
9.11;4.11 Congenital Anomalies of the Kidneys;128
9.12;4.12 Congenital Uterine Malformations;132
9.13;4.13 Retrocaval Ureter;136
9.14;4.14 Hematocolpos;138
9.15;4.15 Alagille Syndrome (Arteriohepatic Dysplasia);140
10;Chapter 5 The Musculoskeletal System;142
10.1;5.1 Basic Concepts in Bone Dysplasias;143
10.2;5.2 Congenital Radioulnar Synostosis;150
10.3;5.3 Klippel-Feil Syndrome (Blocked Cervical Vertebrae);151
10.4;5.4 Spinal Dysraphism;153
10.5;5.5 Vertebral Clefts;156
10.6;5.6 Arcuate Foramen (Kimmerle Anomaly);158
10.7;5.7 Supracondylar Process of the Humerus;159
10.8;5.8 Tarsal Coalition;160
10.9;5.9 Paget Disease (Ostitis Deformans);162
10.10;5.10 Osteopetrosis (Albers-Schönburg Disease/Marble Bone Disease);164
10.11;5.11 Mucopolysaccharidosis;167
10.12;5.12 Ollier Disease and Ma. ucci Syndrome;170
10.13;5.13 Osteogenesis Imperfecta;172
10.14;5.14 Caudal Regression Syndrome and Sirenomelia (Mermaid Syndrome);174
10.15;5.15 Ellis-van Creveld Syndrome (Chondroectodermal Dysplasia);176
10.16;5.16 SAPHO Syndrome (Anterior Chest Wall Syndrome);177
10.17;5.17 Fong Disease and Nail-Patella Syndrome;179
10.18;5.18 Progeria (Hutchinson-Gilford Syndrome);180
10.19;5.19 Tarlov Cyst;182
10.20;5.20 Madelung Deformity and Dyschondrosteosis;184
11;Chapter 6 Phakomatoses (Neurocutaneous Syndromes);185
11.1;6.1 Neurofibromatosis;186
11.2;6.2 Sturge-Weber Syndrome (Encephalotrigeminal Angiomatosis);190
11.3;6.3 Tuberous Sclerosis (Bourneville-Pringle Disease);192
11.4;6.4 Neurocutaneous Melanosis;195
11.5;6.5 PHACE Syndrome;197
11.6;6.6 Von Hippel-Lindau Syndrome;199
11.7;6.7 Cowden Syndrome (Multiple Hamartoma-Neoplasia Syndrome);201
11.8;6.8 Gorlin Syndrome (Basal Nevus Cell Carcinoma Syndrome);203
11.9;6.9 Wyburn-Mason Syndrome;204
12;Index;206