Atlas of Developmental Field Anomalies of the Human Skeleton: A Paleopathology Perspective Book

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