Long known as the go-to resource for superbly illustrated, up-to-date coverage in this complex field, Smith's Recognizable Patterns of Human Malformation, 8th Edition, provides a wealth of information on malformation syndromes of environmental and genetic etiology, recognizable disorders of unknown cause, clinical approaches to specific diagnoses, and normal standards of measurement for the entire spectrum of disorders. This award-winning reference is indispensable for clinicians in pediatrics, neonatology, family medicine, and genetics, as well as nurse practitioners and physician assistants—anyone who needs a complete, authoritative, and easy-to-read guide to help accurately diagnose human disorders, establish prognoses, and provide appropriate management and genetic counseling.
Includes an easy-to-read description of each condition: Common and occasional abnormalities, natural history, etiology, and references. Opposing pages contain descriptive photographs and line drawings of either an individual with the abnormality or specific features of the abnormality.
Contains new coverage of Hennekam Syndrome, Parkes Weber Syndrome, KBG Syndrome, Kosaki Overgrowth, Malan Syndrome, and much more.
Arranges disorders based on similarity in overall features, so you can easily navigate to the correct section and compare/contrast similar disorders.
Features more than 1,500 full-color photographs and illustrations, many from the personal collections of Drs. Smith and Jones, and others from multiple international collaborators.
Provides summarized information in order to understand basic mechanisms of morphogenesis and birth defects and key concepts in genetics and genetic testing—necessary information for counseling patients and parents.
1. Cover image - p. Cover 2. Title page - p. ii 3. Table of Contents - p. iii 4. Copyright - p. iii 5. Dedication to the First Edition - p. iii 6. Acknowledgments - p. iii 7. Dysmorphology Approach and Classification - p. iii 8. List of Illustrations - p. gxxi 9. List of Tables - p. gxxi 10. Chapter 1: Recognizable Patterns of Malformation - p. gxxi 11. Chapter 1: Chromosomal Abnormality Syndromes Identifiable on Routine Karyotype - p. gxxi 12. Chapter 2: Deletion, Duplication, and Microduplication Syndromes Identifiable Using Molecular Technology - p. g71 13. Chapter 3: Very Small Stature, Not Skeletal Dysplasia - p. g97 14. Chapter 4: Moderate Short Stature, Facial, ± Genital - p. g130 15. Chapter 5: Senile-Like Appearance - p. g153 16. Chapter 6: Early Overgrowth with Associated Defects - p. g196 17. Chapter 7: Unusual Brain and/or Neuromuscular Findings with Associated Defects - p. g225 18. Chapter 8: Facial Defects as Major Feature - p. g315 19. Chapter 9: Facial-Limb Defects as Major Feature - p. g359 20. Chapter 10: Limb Defect as Major Feature - p. g426 21. Chapter 11: Osteochondrodysplasias - p. g454 22. Chapter 12: Osteochondrodysplasia with Osteopetrosis - p. g552 23. Chapter 13: Craniosynostosis Syndromes - p. g567 24. Chapter 14: Other Skeletal Dysplasias - p. g589 25. Chapter 15: Storage Disorders - p. g635 26. Chapter 16: Connective Tissue Disorders - p. g653 27. Chapter 17: Hamartoses - p. g693 28. Chapter 18: Ectodermal Dysplasias - p. g749 29. Chapter 19: Environmental Agents - p. g783 30. Chapter 20: Miscellaneous Syndromes - p. g813 31. Chapter 21: Miscellaneous Sequences - p. g865 32. Chapter 22: Spectra of Defects - p. g899 33. Chapter 23: Miscellaneous Associations - p. g916 34. Chapter 24: Genetics, Genetic Counseling, and Prevention - p. g924 35. Chapter 25: Minor Anomalies: Clues to More Serious Problems and to the Recognition of Malformation Syndromes - p. g952 36. Chapter 26: Normal Standards - p. g967 37. Pattern of Malformation Differential Diagnosis by Anomalies - p. g967 38. Index - p. g1054
Long known as the go-to resource for superbly illustrated, up-to-date coverage in this complex field, Smith's Recognizable Patterns of Human Malformation, 8th Edition, provides a wealth of information on malformation syndromes of environmental and genetic etiology, recognizable disorders of unknown cause, clinical approaches to specific diagnoses, and normal standards of measurement for the entire spectrum of disorders. This award-winning reference is indispensable for clinicians in pediatrics, neonatology, family medicine, and genetics, as well as nurse practitioners and physician assistants—anyone who needs a complete, authoritative, and easy-to-read guide to help accurately diagnose human disorders, establish prognoses, and provide appropriate management and genetic counseling.
Includes an easy-to-read description of each condition: Common and occasional abnormalities, natural history, etiology, and references. Opposing pages contain descriptive photographs and line drawings of either an individual with the abnormality or specific features of the abnormality.
Contains new coverage of Hennekam Syndrome, Parkes Weber Syndrome, KBG Syndrome, Kosaki Overgrowth, Malan Syndrome, and much more.
Arranges disorders based on similarity in overall features, so you can easily navigate to the correct section and compare/contrast similar disorders.
Features more than 1,500 full-color photographs and illustrations, many from the personal collections of Drs. Smith and Jones, and others from multiple international collaborators.
Provides summarized information in order to understand basic mechanisms of morphogenesis and birth defects and key concepts in genetics and genetic testing—necessary information for counseling patients and parents.
1. Cover image - p. Cover 2. Title page - p. ii 3. Table of Contents - p. iii 4. Copyright - p. iii 5. Dedication to the First Edition - p. iii 6. Acknowledgments - p. iii 7. Dysmorphology Approach and Classification - p. iii 8. List of Illustrations - p. gxxi 9. List of Tables - p. gxxi 10. Chapter 1: Recognizable Patterns of Malformation - p. gxxi 11. Chapter 1: Chromosomal Abnormality Syndromes Identifiable on Routine Karyotype - p. gxxi 12. Chapter 2: Deletion, Duplication, and Microduplication Syndromes Identifiable Using Molecular Technology - p. g71 13. Chapter 3: Very Small Stature, Not Skeletal Dysplasia - p. g97 14. Chapter 4: Moderate Short Stature, Facial, ± Genital - p. g130 15. Chapter 5: Senile-Like Appearance - p. g153 16. Chapter 6: Early Overgrowth with Associated Defects - p. g196 17. Chapter 7: Unusual Brain and/or Neuromuscular Findings with Associated Defects - p. g225 18. Chapter 8: Facial Defects as Major Feature - p. g315 19. Chapter 9: Facial-Limb Defects as Major Feature - p. g359 20. Chapter 10: Limb Defect as Major Feature - p. g426 21. Chapter 11: Osteochondrodysplasias - p. g454 22. Chapter 12: Osteochondrodysplasia with Osteopetrosis - p. g552 23. Chapter 13: Craniosynostosis Syndromes - p. g567 24. Chapter 14: Other Skeletal Dysplasias - p. g589 25. Chapter 15: Storage Disorders - p. g635 26. Chapter 16: Connective Tissue Disorders - p. g653 27. Chapter 17: Hamartoses - p. g693 28. Chapter 18: Ectodermal Dysplasias - p. g749 29. Chapter 19: Environmental Agents - p. g783 30. Chapter 20: Miscellaneous Syndromes - p. g813 31. Chapter 21: Miscellaneous Sequences - p. g865 32. Chapter 22: Spectra of Defects - p. g899 33. Chapter 23: Miscellaneous Associations - p. g916 34. Chapter 24: Genetics, Genetic Counseling, and Prevention - p. g924 35. Chapter 25: Minor Anomalies: Clues to More Serious Problems and to the Recognition of Malformation Syndromes - p. g952 36. Chapter 26: Normal Standards - p. g967 37. Pattern of Malformation Differential Diagnosis by Anomalies - p. g967 38. Index - p. g1054
