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