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Human Malformations and Related Anomalies

Stevenson, Roger E.

eBook 2015

risorsa Web

Abstract

 The third edition of Human Malformations and Related Anomalies is a comprehensive reference and clinical guide to significant human malformations. Authored by 40 authorities in genetics and dysmorphology, this streamlined new edition offers an authoritative and richly illustrated guide to clinical presentation, associated anomalies, treatment, and prognosis
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eBook
Monografia
Description *Human Malformations and Related Anomalies. - 3rd ed
Oxford : Oxford University Press, Incorporated, 2015
©2015. - 1 online resource (1001 pages)
Note Formato pdf/epub - Accesso riservato secondo le condizioni contrattuali https://ebookcentral.proquest.com/lib/unibo/detail.action?docID=4083867
ISBN 9780199386048
9780199386031
Series Oxford Monographs on Medical Genetics Series
Author
Stevenson, Roger E.
Coauthor
Everman, David B
Hall, Judith G.
Solomon, Benjamin D
Publication year 2015
Contents note Cover -- OXFORD MONOGRAPHS ON MEDICAL GENETICS -- HUMAN MALFORMATIONS AND RELATED ANOMALIE -- CONTENTS -- PREFACE -- ACKNOWLEDGMENTS -- CONTRIBUTORS -- INTRODUCTION -- I.1. Nomenclature -- I.2. Etiology and Pathogenesis -- I.3. Classification and Coding -- I.4. Genetic Causes of Congenital Anomalies -- I.5. Environmental Causes of Congenital Anomalies -- I.6. Human Anomalies with Unknown Causes -- I.7. Detection, Diagnosis, Evaluation, Management -- 1 | LIMBS -- Introduction -- 1.1. Limb Deficiency -- 1.1a. Absence of Limb -- 1.1b. Absent Radius -- 1.1c. Absent Ulna -- 1.1d. Absence and Hypoplasia of the Humerus -- 1.1e. Absence and Hypoplasia of the Tibia -- 1.1f. Absence and Hypoplasia of the Fibula -- 1.1g. Absence and Hypoplasia of the Femur -- 1.1h. Terminal Transverse Limb Deficiency -- 1.2. Synostosis -- 1.2a. Carpal Coalition and Tarsal Coalition -- 1.2b. Metacarpophalangeal and Metatarsophalangeal Synostosis -- 1.2c. Proximal Symphalangism -- 1.2d. Distal Symphalangism -- 1.2e. Humeroradial Synostosis -- 1.2f. Radioulnar Synostosis -- 1.2g. Tibiofibular Synostosis -- 1.2h. Sirenomelia -- 1.3. Constriction Rings -- 1.4. Excessive Partitions, Duplications, and Accessory Bones -- 1.5. Bowing of Long Bones -- 1.6. Short Stature -- 1.7. Tall Stature -- 1.8. Limb Overgrowth -- 1.9. Increased Bone Density -- 1.10. Decreased Bone Density -- 1.11. Osteolysis -- 1.12. Anomalies of the Patella -- 1.13. Arthrogryposis -- 1.13a. Amyoplasia -- 1.13b. Distal Arthrogryposis -- 1.13c. Fetal Akinesia Phenotype -- 1.13d. Pterygium -- 2 | HANDS AND FEET -- Introduction -- 2.1. Polydactyly -- 2.1a. Preaxial Polydactyly -- 2.1b. Postaxial Polydactyly -- 2.1c. Mesoaxial Polydactyly -- 2.2. Syndactyly -- 2.2a. Syndactyly Type I -- 2.2b. Syndactyly Type II -- 2.2c. Syndactyly Type III -- 2.2d. Syndactyly Type IV -- 2.2e. Syndactyly Type V. 2.2f. Complete Syndactyly -- 2.2g. Cenani-Lenz Syndactyly -- 2.2h. Symbrachydactyly -- 2.3. Brachydactyly -- 2.3a. Brachydactyly Type A1 -- 2.3b. Brachydactyly Type A2 -- 2.3c. Brachydactyly Type A3 -- 2.3d. Brachydactyly Type B -- 2.3e. Brachydactyly Type C -- 2.3f. Brachydactyly Type D -- 2.3g. Brachydactyly Type E -- 2.4. Osseous Deficiencies of the Hands and Feet -- 2.4a. Preaxial Deficiency -- 2.4b. Postaxial Deficiency -- 2.5. Terminal Transverse Deficiency -- 2.6. Split-Hand/Foot Malformation -- 2.7. Macrodactyly -- 2.8. Camptodactyly -- 2.9. Clubfoot -- 3 | PECTORAL AND PELVIC GIRDLES -- Introduction -- 3.1. Clavicular Hypoplasia or Aplasia -- 3.2. Clavicular Pseudoarthrosis -- 3.3. Altered Shape and Other Abnormalities of the Clavicle -- 3.4. Sprengel Anomaly -- 3.5. Glenoid Hypoplasia -- 3.6. Anomalies of the Pelvic Bones -- 3.7. Developmental Dysplasia of the Hip -- 3.8. Coxa Vara -- 3.9. Coxa Valga -- 4 | SPINE AND THORACIC CAGE -- Introduction -- 4.1. Occipitalization of the Atlas -- 4.2. Aplasia/Hypoplasia of the Odontoid Process of the Axis -- 4.3. Klippel-Feil Anomaly -- 4.4. Segmentation Defects of the Vertebrae -- 4.5. Altered Vertebral Body Contour -- 4.6. Sagittal Clefts of the Vertebrae -- 4.7. Coronal Clefts of the Vertebrae -- 4.8. Spondylolysis and Spondylolisthesis -- 4.9. Sacral Agenesis -- 4.10. Anomalies of the Ribs -- 4.11. Cervical Rib -- 4.12. Pectus Excavatum -- 4.13. Pectus Carinatum -- 4.14. Anomalies of the Sternum -- 5 | SKULL -- Introduction -- 5.1. Craniosynostosis -- 5.2. Kleeblattschädel -- 5.3. Wide Cranial Sutures -- 5.4. Anomalies of Fontanels -- 5.5. Parietal Foramina -- 5.6. Wormian Bones -- 5.7. Cranial Dermal Sinus -- 5.8. Scalp Vertex Aplasia and Atretric Encephaloceles -- 5.9. Thin Cranial Bones -- 5.10. Undermineralization of the Skull -- 5.11. Craniotabes -- 5.12. Thick Cranial Bones. 5.13. Sclerosis and Hyperostosis of the Skull -- 5.14. Vertex Birth Molding -- 5.15. Breech Head and Bathrocephaly -- 5.16. Other Cranial Deformations Due to Abnormal Fetal Presentation -- 5.17. Anomalies of the Sella Turcica -- 5.18. Anomalies of the Foramen Magnum -- 5.19.