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Atlas of Developmental Field Anomalies of the Human Skeleton

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Written by one of the most consulted authorities on the subject, Atlas of Developmental Field Anomalies of the Human Skeleton is the pre-eminent resource for developmental defects of the skeleton. This guide focuses on localized bone structures utilizing the morphogenetic approach that addresses the origins of variability within specific developmental fields during embryonic development. Drawings and photographs make up most of the text, forming a picture atlas with descriptive text for each group of illustrations. Each section and subdivision is accompanied by brief discussions and drawings of morphogenetic development.
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Table of Contents

Preface xv List of Figures xvii INTRODUCTION 1 PART I. AXIAL SKELETON 7 A. SKULL 9 A-1. CRANIAL VAULT DEVELOPMENT 9 CRANIAL VAULT ANOMALIES 10 A-1.1. Extra Ossicles 10 A-1.2. Extra Sutures 11 A-1.3. Sutural Agenesis 11 A-1.4. Parietal Thinning 11 A-1.5. Enlarged Parietal Foramina 11 A-1.6. Inclusion Cysts 11 A-1.7. Cranial Neural Tube Defects 19 A-1.8. Hydrocephaly 20 A-1.9. Microcephaly 21 A-2. FACE DEVELOPMENT 21 FACIAL ANOMALIES 24 A-2.1. Facial Clefts 24 A-2.2. Nasal Bone Hypoplasia/Aplasia 25 A-2.3.1. Cleft Lip 25 A-2.3.2. Cleft Lip with Cleft Palate 26 A-2.4. Cleft Palate 32 A-2.5. Cleft Mandible 32 A-2.6. Mandibular Hypoplasia 32 A-2.7. Bifid Mandibular Condyle 32 A-2.8. Coronoid Hyperplasia 35 A-2.9. Palate Inclusion (Fissural) Cyst 35 A-2.10. Mandibular Inclusion Cyst 37 A-2.11. Mandibular Torus 37 A-3. EXTERNAL AUDITORY MEATUS AND TYMPANIC PLATE DEVELOPMENT 37 EXTERNAL AUDITORY MEATUS AND TYMPANIC PLATE ANOMALIES 42 A-3.1. Atresia (Aplasia)/Hypoplasia External Auditory Meatus 42 A-3.2. Tympanic Aperture 42 A-3.3. External Auditory Torus 42 A-4. STYLOHYOID CHAIN DEVELOPMENT 43 STYLOHYOID CHAIN ANOMALIES 43 A-4.1. Stylohyoid Chain Variations in Ossification 43 A-4.2. Thyroglossal Developmental Cyst 46 A-5. SKULL BASE DEVELOPMENT 49 SKULL BASE ANOMALIES 50 A-5.1. Basioccipital Hypoplasia/Aplasia 50 A-5.2. Basioccipital Clefts 50 OCCIPITAL CERVICAL (O-C) BORDER DEVELOPMENT 50 A-5.3. Cranial Shifting of the O-C Border 50 A-5.4. Caudal Shifting of the O-C Border 55 B. VERTEBRAL COLUMN 59 VERTEBRAL COLUMN DEVELOPMENT 59 VERTEBRAL COLUMN ANOMALIES 61 B-1. Vertebral Border Shifting 61 B-1.1. Cranial Shifts of the Cervical Thoracic (C-T) Border 61 B-1.2. Caudal Shifts of the C-T Border 61 B-1.3. Cranial Shifts of the Thoracic Lumbar (T-L) Border 61 B-1.4. Caudal Shifts of the T-L Border 65 B-1.5. Cranial Shifts of the Lumbar Sacral (L-S) Border 65 B-1.6. Caudal Shifts of the L-S Border 68 B-1.7. Cranial Shifts of the Sacral Caudal (S-C) Border 70 B-1.8. Caudal Shifts of the S-C Border 70 B-2. Extra Vertebral Segment (Transitional Vertebra) 70 B-3. Cleft Neural Arch 71 B-4. Cleft Atlas Anterior Arch 74 B-5.1. Notochord Defect: Sagittal Cleft Vertebra 75 B-5.2. Notochord Defect Diastematomyelia 76 B-6. Neural Tube Defect Spina Bifi da 76 B-7. Hemivertebra: Hemimetameric Shifts 80 B-8. Lateral Hypoplasia/Aplasia 81 B-9. Ventral Hypoplasia/Aplasia 81 B-10. Dorsal Hypoplasia/Aplasia 88 B-11.1. Single Block Vertebra 92 B-11.2. Multiple Block Vertebra 92 B-11.3. Klippel Feil Multiple Block Vertebra 93 B-12. Neural Arch Complex Disorders 93 B-13. Atlas Posterior/Lateral Bridging 95 B-14. Multiple Vertebral Anomalies 97 B-15. Sacral Agenesis versus Hemisacrum 97 B-16. Enlarged Anterior Basivertebral Foramina 103 C. RIBS 105 RIB DEVELOPMENT 105 RIB ANOMALIES 106 C-1. Supernumerary Ribs 106 Transitional Vertebra Extra Rib 106 Intrathoracic Rib 106 C-2. Rib Hypoplasia/Aplasia 106 C-3. Merged Ribs 107 C-4. Bifurcated Ribs 107 C-5. Other Rib Disorders 107 Bridged Ribs 107 Rib Spur 108 Flared Rib 108 Rib Hyperplasia 108 D. STERNUM 109 STERNUM DEVELOPMENT 109 STERNUM ANOMALIES AND VARIATIONS 109 D-1. Suprasternal Ossicles 109 D-2. Mesosternum Shape Variations 110 D-3. Manubrium Mesosternal Joint Fusion 116 D-4. Misplaced Manubrium Mesosternal Joint 116 D-5. Mesosternal Hypoplasia/Aplasia 117 D-6. Sternal Hyperplasia 117 D-7. Sternal Aperture 117 D-8. Sternal Caudal Clefting 118 D-9. Bifurcated Sternum 118 D-10. Pectus Excavatum (Funnel Chest) 119 D-11. Pectus Carinatum (Pigeon Breast) 120 PART II. APPENDICULAR SKELETON 121 E. UPPER LIMBS 123 UPPER LIMB DEVELOPMENT 123 SHOULDER GIRDLE SEGMENT 124 E-1. CLAVICLE DEVELOPMENT 124 CLAVICLE ANOMALIES 124 E-1.1. Clavicle Hypoplasia/Aplasia 124 E-1.2. Bifurcated Clavicle (Congenital Pseudoarthrosis) 125 E-1.3. Clavicle Duplication 125 E-2. SCAPULA DEVELOPMENT 126 SCAPULA ANOMALIES 126 E-2.1. Scapular Secondary Ossicles 126 E-2.2. Scapula Secondary Ossifi cation Hypoplasia/Aplasia 126 E-2.3. Scapula Glenoid Neck Hypoplasia 128 E-2.4. Scapular Aperture 128 E-2.5. Sprengel s Deformity of the Scapula 128 E-2.6. Scapular Coracoid Clavicular Bony Bridge 130 ARM SEGMENT 130 E-3. HUMERUS DEVELOPMENT 130 HUMERUS ANOMALIES 131 E-3.1. Phocomelia 131 Proximal Phocomelia (Agenesis of the Humerus) 131 Distal Phocomelia (Agenesis of the Forearm) 131 E-3.2. Proximal Humeral Head Disturbance 131 E-3.3. Distal Humerus Disturbances 131 Supracondylar Process 131 Septal Aperture 131 Nonunion of Distal Secondary Ossifications 132 Aplasia of Distal Secondary Ossifications 132 E-3.4. Elbow Patella Cubiti 132 FOREARM AND HAND SEGMENTS 132 PARAXIAL DEVELOPMENT 132 E-4. RADIUS AND ULNA DEVELOPMENT 135 RADIUS AND ULNA ANOMALIES 136 E-4.1. Forearm Meromelia (Congenital Amputation) 136 E-4.2. Forearm Paraxial Hemimelia 136 Radial (Preaxial) Hemimelia 137 Ulnar (Postaxial) Hemimelia 137 E-4.3. Duplication (Dimelia) Forearm Ray 139 E-4.4. Madelung s Deformity 139 E-4.5. Radial Ulnar Synostosis 139 E-4.6. Ulnar Styloid Os/Aplasia 140 E-5. CARPUS DEVELOPMENT 140 CARPAL ANOMALIES 142 E-5.1. Carpal Coalitions 142 E-5.2. Atypical Carpal Coalitions 142 Massive Carpal Coalition 144 E-5.3. Carpals Bipartite and Separated Marginal Carpal Elements 144 E-5.4. Carpal Hypoplasia/Aplasia/Hyperplasia 144 E-5.5. Os Metastyloideum 150 E-6. DIGITAL DEVELOPMENT 150 DIGITAL ANOMALIES 150 E-6.1. Brachydactyly 150 Atypical Brachydactyly 151 E-6.2. Syndactyly Complex 154 E-6.3. Symphalangism 154 E-6.4. Triphalangeal Thumb 155 E-6.5. Ectrodactyly 158 E-6.6. Polydactyly 160 F. LOWER LIMBS 163 LOWER LIMB DEVELOPMENT 163 PELVIC GIRDLE SEGMENT 164 F-1. INNOMINATE DEVELOPMENT 164 INNOMINATE ANOMALIES 165 F-1.1. Developmental Hip Dysplasia 165 F-1.2. Sacroiliac Coalition 167 THIGH SEGMENT 168 F-2. FEMUR DEVELOPMENT 168 FEMUR ANOMALIES 168 F-2.1. Proximal Femur Variations 168 Asymmetrical Torsion of the Femoral Neck 168 Hypoplasia of the Femoral Head and/or Neck 168 Coxa Vara 168 Coxa Valga 168 F-2.2. Femur Hypoplasia/Aplasia 168 Proximal Femoral Focal Defi ciency 168 Phocomelia 170 F-2.3. Bifurcated Distal Femur 170 F-3. PATELLA DEVELOPMENT 170 PATELLA ANOMALIES 170 F-3.1. Patella Hypoplasia/Aplasia 170 F-3.2. Segmented Patella 170 LOWER LEG AND FOOT SEGMENTS 171 PARAXIAL DEVELOPMENT 171 F-4. TIBIA AND FIBULA DEVELOPMENT 173 TIBIA AND FIBULA ANOMALIES 173 F-4.1. Lower Leg Meromelia (Congenital Amputation) 173 F-4.2. Lower Leg Paraxial Hemimelia 173 Tibial (Preaxial) Hemimelia 174 Fibular (Postaxial) Hemimelia 174 F-4.3. Duplication (Dimelia) Lower Leg Ray 174 F-4.4. Tibia Fibula Synostosis 174 F-5. TARSUS DEVELOPMENT 177 TARSAL ANOMALIES 179 F-5.1. Club Foot (Talipes Equinovarus) 179 F-5.2. Vertical Talus 180 F-5.3. Tarsal Coalitions 180 F-5.4. Tarsal Metatarsal Coalitions 182 F-5.5. Metatarsal Phalanx Coalitions 183 F-5.6. Tibia Hindfoot Coalition 183 F-5.7. Tarsals Bipartite and Separate Marginal Elements 183 F-5.8. Tarsal Hyperplasia/Hypoplasia/Aplasia 187 F-6. DIGITAL DEVELOPMENT 188 DIGITAL ANOMALIES 188 F-6.1. Os Metatarsium and Os Vesalianum 188 F-6.2. Brachydactyly 188 F-6.3. Syndactyly Complex 191 F-6.4. Symphalangism 191 F-6.5. Ectrodactyly 193 F-6.6. Polydactyly 193 Literature Cited 199 Index 203

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