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Atlas of Developmental Field Anomalies of the Human Skeleton

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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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