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