Description
Book SynopsisTrade Review"While individual conditions are rare, for pediatricians, managing patients with rare diseases is a part of our core work. This reference book is written in a clear, diverse, and accessible fashion, with an excellent range of clinical photographs and diagrams to deliver the key messages in a concise format. This will be a very valuable resource to determine the diagnosis and improve the management of patients with dysmorphology. -Winner of the BMA Medical Book Awards 2022 Pediatrics and Child Health Category Winner of the BMA Medical Book Awards 2022 Paediatrics and Child Health Category "While individual conditions are rare, for paediatricians, managing patients with rare diseases is a part of our core work. This reference book is written in a clear, diverse, and accessible fashion, with an excellent range of clinical photographs and diagrams to deliver the key messages in a concise format. This will be a very valuable resource to determine the diagnosis and improve the management of patients with dysmorphology.
Table of ContentsSection/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
