Human Malformations and Related Anomalies. (Record no. 101903)
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| fixed length control field | 11675nam a22005653i 4500 |
| 001 - CONTROL NUMBER | |
| control field | EBC4083867 |
| 003 - CONTROL NUMBER IDENTIFIER | |
| control field | MiAaPQ |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20240729130059.0 |
| 006 - FIXED-LENGTH DATA ELEMENTS--ADDITIONAL MATERIAL CHARACTERISTICS | |
| fixed length control field | m o d | |
| 007 - PHYSICAL DESCRIPTION FIXED FIELD--GENERAL INFORMATION | |
| fixed length control field | cr cnu|||||||| |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 240724s2015 xx o ||||0 eng d |
| 020 ## - INTERNATIONAL STANDARD BOOK NUMBER | |
| International Standard Book Number | 9780199386048 |
| Qualifying information | (electronic bk.) |
| 020 ## - INTERNATIONAL STANDARD BOOK NUMBER | |
| Canceled/invalid ISBN | 9780199386031 |
| 035 ## - SYSTEM CONTROL NUMBER | |
| System control number | (MiAaPQ)EBC4083867 |
| 035 ## - SYSTEM CONTROL NUMBER | |
| System control number | (Au-PeEL)EBL4083867 |
| 035 ## - SYSTEM CONTROL NUMBER | |
| System control number | (CaPaEBR)ebr11138207 |
| 035 ## - SYSTEM CONTROL NUMBER | |
| System control number | (CaONFJC)MIL849397 |
| 035 ## - SYSTEM CONTROL NUMBER | |
| System control number | (OCoLC)936298415 |
| 040 ## - CATALOGING SOURCE | |
| Original cataloging agency | MiAaPQ |
| Language of cataloging | eng |
| Description conventions | rda |
| -- | pn |
| Transcribing agency | MiAaPQ |
| Modifying agency | MiAaPQ |
| 050 #4 - LIBRARY OF CONGRESS CALL NUMBER | |
| Classification number | QM691 |
| 082 0# - DEWEY DECIMAL CLASSIFICATION NUMBER | |
| Classification number | 616/.043 |
| 100 1# - MAIN ENTRY--PERSONAL NAME | |
| Personal name | Stevenson, Roger E. |
| 245 10 - TITLE STATEMENT | |
| Title | Human Malformations and Related Anomalies. |
| 250 ## - EDITION STATEMENT | |
| Edition statement | 3rd ed. |
| 264 #1 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Place of production, publication, distribution, manufacture | Oxford : |
| Name of producer, publisher, distributor, manufacturer | Oxford University Press, Incorporated, |
| Date of production, publication, distribution, manufacture, or copyright notice | 2015. |
| 264 #4 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | ©2015. |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 1 online resource (1001 pages) |
| 336 ## - CONTENT TYPE | |
| Content type term | text |
| Content type code | txt |
| Source | rdacontent |
| 337 ## - MEDIA TYPE | |
| Media type term | computer |
| Media type code | c |
| Source | rdamedia |
| 338 ## - CARRIER TYPE | |
| Carrier type term | online resource |
| Carrier type code | cr |
| Source | rdacarrier |
| 490 1# - SERIES STATEMENT | |
| Series statement | Oxford Monographs on Medical Genetics Series |
| 505 0# - FORMATTED CONTENTS NOTE | |
| Formatted 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. |
| 505 8# - FORMATTED CONTENTS NOTE | |
| Formatted contents note | 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. |
| 505 8# - FORMATTED CONTENTS NOTE | |
| Formatted contents note | 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. Anomalies of Other Basal Foramina and Canals -- 5.20. Basilar Impression and Basilar Invagination -- 5.21. Cephalohematoma and Caput Succedaneum -- 5.22. Miscellaneous Anomalies of the Skull -- 6 | FACIAL BONES -- Introduction -- 6.1. Metopic Synostosis -- 6.2. Orbital and Ocular Hypotelorism -- 6.3. Orbital and Ocular Hypertelorism -- 6.4. Zygomatic Hypoplasia -- 6.5. Absent Mandible -- 6.6. Congenital Asymmetry of the Facial Skeleton -- 6.7. Micrognathia -- 6.8. Midface Retrusion and Hypoplasia -- 6.9. Midline Facial Clefting -- 7 | SKIN, HAIR, AND NAILS -- Introduction -- 7.1. Aplasia Cutis Congenita -- 7.2. Ichthyosis -- 7.3. Ectodermal Dysplasias -- 7.4. Epidermolysis Bullosa -- 7.5. Cutaneous Hamartomas -- 7.6. Vascular Malformations -- 7.7. Pigmentation Abnormalities -- 7.8. Mosaicism and the Lines of Blaschko -- 7.9. Epidermal Appendage Abnormalities -- 7.10. Disorders of Connective Tissue with Skin Involvement -- 8 | MUSCLE -- Introduction -- 8.1. Excess of Muscle -- 8.1a. Hypertrophia Musculorum Vera -- 8.1b. Kocher-Debré-Sémélaigne -- 8.1c. Hyperekplexia -- 8.2. Deficiency of Muscle -- 8.2a. Deficiency of Extraocular Eye Muscles -- 8.2b. Prune Belly -- 8.2c. Other Abdominal Wall Muscular Defects -- 8.2d. Poland Anomaly -- 8.2e. Lower Limb Poland Type Anomaly -- 8.2f. Other Muscle Hypoplasias -- 8.3. Muscle Variants -- 8.3a. Muscle Variants Associated with Chromosomal Disorders -- 8.3b. Accessory Muscles -- 8.3c. Atavisms -- 9 | BRAIN -- Introduction -- 9.1. Microcephaly -- 9.2. Megalencephaly -- 9.3. Aprosencephaly/Atelencephaly -- 9.4. Holoprosencephaly. |
| 505 8# - FORMATTED CONTENTS NOTE | |
| Formatted contents note | 9.5. Malformations of Cortical Development -- 9.5a. Lissencephaly -- 9.5b. Pachygyria -- 9.5c. Polymicrogyria -- 9.5d. Heterotopias -- 9.5e. Focal Cortical Dysplasia -- 9.6. Agenesis of the Corpus Callosum -- 9.7. Cavum -- 9.8. Hydrocephalus -- 9.9. Colpocephaly -- 9.10. Hydranencephaly -- 9.11. Porencephaly -- 9.12. Cerebellar Abnormalities -- 9.13. Cystic Malformations -- 9.14. Chiari Malformations -- 10 | SPINAL CORD -- Introduction -- 10.1. Primary Tethered Cord -- 10.2. Split Cord Malformation -- 10.3. Tailgut Cyst -- 10.4. Syringomelia -- 10.5. Myelocystocele -- 10.6. Anterior and Lateral Meningoceles -- 10.7. Neurenteric Malformation -- 10.8. Intraspinal (Nonneurenteric) Cysts -- 11 | BRAIN AND SPINAL CORD -- Introduction -- 11.1. Anencephaly -- 11.2. Iniencephaly -- 11.3. Encephalocele -- 11.4. Spina Bifida -- 12 | THE EYE -- Introduction -- 12.1. Anophthalmia -- 12.2. Microphthalmia and Typical Uveal Coloboma -- 12.3. Cyclopia and Synophthalmia -- 12.4. Cryptophthalmos -- 12.5. Blepharophimosis -- 12.6. Other Anomalies of the Eyelids -- 12.7. Corneal Malformations -- 12.8. Aniridia -- 12.9. Anterior Segment Dysgenesis -- 12.10. Peters Anomaly -- 12.11. Congenital Cataract -- 12.12. Persistent Hyperplastic Primary Vitreous -- 12.13. Optic Nerve Hypoplasia -- 12.14. Optic Pit -- 12.15. Morning Glory Disc Anomaly -- 13 | EXTERNAL EAR -- Introduction -- 13.1. Absence, Malformation, or Hypoplasia of the External Ear -- 13.2. Small Ear -- 13.3. Large Ear -- 13.4. Cryptotia -- 13.5. Synotia and Otocephaly -- 13.6. Polyotia -- 13.7. Anomalies of the External Auditory Canal -- 13.8. Abnormal Ear Position -- 13.9. Lop/Cup Ear Anomaly -- 13.10. Protruding Ear -- 13.11. Variants of the Helix and Anthelix Configuration -- 13.12. Variants of the Ear Lobe -- 13.13. Auricular Tags -- 13.14. Auricular Pits -- 13.15. Ear Lobe Creases and Pits. |
| 505 8# - FORMATTED CONTENTS NOTE | |
| Formatted contents note | 13.16. Deformation of the Auricle -- 14 | MIDDLE EAR -- Introduction -- 14.1. Absence, Hypoplasia, and Malformations of the Malleus -- 14.2. Fusion Defects of the Malleus -- 14.3. Absence, Hypoplasia, and Malformation of the Incus -- 14.4. Fusion Defects of the Incus -- 14.5. Absence, Hypoplasia, and Malformation of the Stapes -- 14.6. Congenital Fixation of the Stapes -- 14.7. Absence of the Oval Window -- 14.8. Congenital Cholesteatoma -- 14.9. Persistence of the Stapedial Artery -- 14.10. Highly Placed Jugular Bulb -- 15 | INNER EAR -- Introduction -- 15.1. Inner Ear Malformation -- 15.2. Prelingual Hearing -- 16 | NOSE -- Introduction -- 16.1. Absent Nose -- 16.2. Unilateral Arhinia -- 16.3. Small Nose -- 16.4. Cleft Ala Nasi -- 16.5. Bifid Nose -- 16.6. Choanal Atresia -- 16.7. Supernumerary Naris -- 16.8. Proboscis -- 16.9. Minor Anomalies of the Nose -- 16.10. Nasal Tooth -- 16.11. Deviation of the Nasal Septum -- 16.12. Turbinate Hypertrophy -- 16.13. Arhinencephaly -- 16.14. Encephalocele Involving the Nose -- 17 | LIPS AND PALATE -- Introduction -- 17.1. Median Cleft Lip -- 17.2. Cleft Lip with or without Cleft Palate -- 17.3. Cleft Palate -- 18 | THE TONGUE -- Introduction -- 18.1. Absence and Underdevelopment of the Tongue -- 18.2. Macroglossia -- 18.3. Absence of Lingual Frenulum -- 18.4. Ankyloglossia: Partial, Complete, and Lateral -- 18.5. Glossopalatine Ankylosis -- 18.6. Supernumerary Tongue -- 18.7. Bifid Tongue -- 18.8. Fissured Tongue -- 18.9. Median Rhomboid Glossitis -- 18.10. Pigmented Fungiform Papillae of the Tongue -- 18.11. Choristoma of the Tongue -- 18.12. Lymphangioma of the Tongue -- 18.13. Hemangioma of the Tongue -- 18.14. Mixed Hamartoma of the Tongue -- 18.15. Teratoma of the Tongue -- 18.16. Lingual Thyroid -- 19 | TEETH -- Introduction -- 19.1. Absence of One or More Teeth -- 19.2. Macrodontia. |
| 505 8# - FORMATTED CONTENTS NOTE | |
| Formatted contents note | 19.3. Microdontia. |
| 520 ## - SUMMARY, ETC. | |
| Summary, etc. | 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. |
| 588 ## - SOURCE OF DESCRIPTION NOTE | |
| Source of description note | Description based on publisher supplied metadata and other sources. |
| 590 ## - LOCAL NOTE (RLIN) | |
| Local note | Electronic reproduction. Ann Arbor, Michigan : ProQuest Ebook Central, 2024. Available via World Wide Web. Access may be limited to ProQuest Ebook Central affiliated libraries. |
| 650 #0 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Congenital Abnormalities. |
| 655 #4 - INDEX TERM--GENRE/FORM | |
| Genre/form data or focus term | Electronic books. |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Hall, Judith G. |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Everman, David B. |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Solomon, Benjamin D. |
| 776 08 - ADDITIONAL PHYSICAL FORM ENTRY | |
| Relationship information | Print version: |
| Main entry heading | Stevenson, Roger E. |
| Title | Human Malformations and Related Anomalies |
| Place, publisher, and date of publication | Oxford : Oxford University Press, Incorporated,c2015 |
| International Standard Book Number | 9780199386031 |
| 797 2# - LOCAL ADDED ENTRY--CORPORATE NAME (RLIN) | |
| Corporate name or jurisdiction name as entry element | ProQuest (Firm) |
| 830 #0 - SERIES ADDED ENTRY--UNIFORM TITLE | |
| Uniform title | Oxford Monographs on Medical Genetics Series |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://ebookcentral.proquest.com/lib/orpp/detail.action?docID=4083867">https://ebookcentral.proquest.com/lib/orpp/detail.action?docID=4083867</a> |
| Public note | Click to View |
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