内容

目次

Section 1: Recognizable Patterns of Malformations 1. Chromosomal Abnormality Syndromes Identified on Routine Karyotype 2. Deletion, Duplication And Microduplication Syndromes Identifiable Using Molecular Technology 3. Very Small Stature, Not Skeletal Dysplasia 4. Moderate Short Stature, Facial and Genital 5. Senile-Like Appearance 6. Early Overgrowth with Associated Defects 7. Unusual Brain and/or Neuromuscular Findings with Associated Defects 8. Facial Defects as Major Feature 9. Facial-Limb Defects as Major Feature 10. Limb Defect as Major Feature 11. Osteochondrodysplasias 12. Osteochondrodysplasia with Osteopetrosis 13. Craniosynostosis Syndromes 14. Other Skeletal Dysplasias 15. Storage Disorders 16. Connective Tissue Disorders 17. Hamartoses 18. Ectodermal Dysplasias 19. Environmental Agents 20. Miscellaneous Syndromes 21. Miscellaneous Sequences 22. Spectra of Defects 23. Miscellaneous Associations Section 2: Genetics, Genetic Counseling and Prevention Section 3: Minor Anomalies: Clues to More Serious Problems and to the Recognition of Malformation Syndromes Section 4: Normal Standards Appendix I: Pattern of Malformation Differential Diagnosis by Anomalies