Congenital Diseases and Syndromes (eBook)

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