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Smith's Recognizable Patterns of Human Malformation
Expert Consult - Online and Print
Buch von Kenneth Lyons Jones (u. a.)
Sprache: Englisch

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Beschreibung
Long known as the goto resource for superbly illustrated, uptodate 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 awardwinning reference is indispensable for clinicians in pediatrics, neonatology, family medicine, and genetics, as well as nurse practitioners and physician assistantsanyone who needs a complete, authoritative, and easytoread guide to help accurately diagnose human disorders, establish prognoses, and provide appropriate management and genetic counseling.
Long known as the goto resource for superbly illustrated, uptodate 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 awardwinning reference is indispensable for clinicians in pediatrics, neonatology, family medicine, and genetics, as well as nurse practitioners and physician assistantsanyone who needs a complete, authoritative, and easytoread guide to help accurately diagnose human disorders, establish prognoses, and provide appropriate management and genetic counseling.
Inhaltsverzeichnis

Section/Chapter 1 Recognizable Patterns of Malformations

1. A Chromosomal Abnormality Syndromes Identified on Routine Karyotype

2. B Deletion, Duplication And Microduplication Syndromes Identifiable Using Molecular Technology

3. C Very Small Stature, Not Skeletal Dysplasia

4. D Moderate Short Stature, Facial and Genital

5. E Senile-Like Appearance

6. F Early Overgrowth with Associated Defects

7. G Unusual Brain and/or Neuromuscular Findings with Associated Defects

8. H Facial Defects as Major Feature

9. I Facial-Limb Defects as Major Feature

10. J. Limb Defect as Major Feature

11. K. Osteochondrodysplasias

12. L. Osteochondrodysplasia with Osteopetrosis

13. M. Craniosynostosis Syndromes

14. N. Other Skeletal Dysplasias

15. O. Storage Disorders

16. P. Connective Tissue Disorders

17. Q. Hamartoses

18. R. Ectodermal Dysplasias

19. S. Environmental Agents

20. T. Miscellaneous Syndromes

21. U. Miscellaneous Sequences

22. V. Spectra of Defects

23. W. Miscellaneous Associations

SECTION/CHAPTER 2 Genetics, Genetic Counseling and Prevention

24. CH 2 Genetics, Genetic Counseling and Prevention

SECTION/CHAPTER 3: Minor Anomalies: Clues to More Serious Problems and to the Recognition of Malformation Syndromes

25. CH 3. Minor Anomalies: Clues to More Serious Problems and to the Recognition of Malformation Syndromes

SECTION/CHAPTER 4: Normal Standards

26. CH 4 Normal Standards

Appendix I

27. Appendix 1: Pattern of Malformation Differential Diagnosis by Anomaliees

Details
Erscheinungsjahr: 2021
Fachbereich: Andere Fachgebiete
Genre: Medizin
Rubrik: Wissenschaften
Medium: Buch
Inhalt: Gebunden
ISBN-13: 9780323638821
ISBN-10: 0323638821
Sprache: Englisch
Herstellernummer: C2017-0-03856-9
Einband: Gebunden
Autor: Jones, Kenneth Lyons
Jones, Marilyn Crandall
Del Campo, Miguel
Auflage: 8. Auflage
Hersteller: Elsevier LTD
Elsevier
Saunders W.B.
Abbildungen: 1454 illustrations
Maße: 267 x 194 x 42 mm
Von/Mit: Kenneth Lyons Jones (u. a.)
Erscheinungsdatum: 01.07.2021
Gewicht: 2,54 kg
Artikel-ID: 119321494
Inhaltsverzeichnis

Section/Chapter 1 Recognizable Patterns of Malformations

1. A Chromosomal Abnormality Syndromes Identified on Routine Karyotype

2. B Deletion, Duplication And Microduplication Syndromes Identifiable Using Molecular Technology

3. C Very Small Stature, Not Skeletal Dysplasia

4. D Moderate Short Stature, Facial and Genital

5. E Senile-Like Appearance

6. F Early Overgrowth with Associated Defects

7. G Unusual Brain and/or Neuromuscular Findings with Associated Defects

8. H Facial Defects as Major Feature

9. I Facial-Limb Defects as Major Feature

10. J. Limb Defect as Major Feature

11. K. Osteochondrodysplasias

12. L. Osteochondrodysplasia with Osteopetrosis

13. M. Craniosynostosis Syndromes

14. N. Other Skeletal Dysplasias

15. O. Storage Disorders

16. P. Connective Tissue Disorders

17. Q. Hamartoses

18. R. Ectodermal Dysplasias

19. S. Environmental Agents

20. T. Miscellaneous Syndromes

21. U. Miscellaneous Sequences

22. V. Spectra of Defects

23. W. Miscellaneous Associations

SECTION/CHAPTER 2 Genetics, Genetic Counseling and Prevention

24. CH 2 Genetics, Genetic Counseling and Prevention

SECTION/CHAPTER 3: Minor Anomalies: Clues to More Serious Problems and to the Recognition of Malformation Syndromes

25. CH 3. Minor Anomalies: Clues to More Serious Problems and to the Recognition of Malformation Syndromes

SECTION/CHAPTER 4: Normal Standards

26. CH 4 Normal Standards

Appendix I

27. Appendix 1: Pattern of Malformation Differential Diagnosis by Anomaliees

Details
Erscheinungsjahr: 2021
Fachbereich: Andere Fachgebiete
Genre: Medizin
Rubrik: Wissenschaften
Medium: Buch
Inhalt: Gebunden
ISBN-13: 9780323638821
ISBN-10: 0323638821
Sprache: Englisch
Herstellernummer: C2017-0-03856-9
Einband: Gebunden
Autor: Jones, Kenneth Lyons
Jones, Marilyn Crandall
Del Campo, Miguel
Auflage: 8. Auflage
Hersteller: Elsevier LTD
Elsevier
Saunders W.B.
Abbildungen: 1454 illustrations
Maße: 267 x 194 x 42 mm
Von/Mit: Kenneth Lyons Jones (u. a.)
Erscheinungsdatum: 01.07.2021
Gewicht: 2,54 kg
Artikel-ID: 119321494
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