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.”

• Section 1 Recognizable Patterns of Malformations1. A Chromosomal Abnormality Syndromes Identified on Routine Karyotype2. B Deletion, Duplication And Microduplication Syndromes Identifiable Using Molecular Technology3. C Very Small Stature, Not Skeletal Dysplasia4. D Moderate Short Stature, Facial and Genital5. E Senile-Like Appearance6. F Early Overgrowth with Associated Defects7. G Unusual Brain and/or Neuromuscular Findings with Associated Defects8. H Facial Defects as Major Feature9. I Facial-Limb Defects as Major Feature10. J. Limb Defect as Major Feature11. K. Osteochondrodysplasias12. L. Osteochondrodysplasia with Osteopetrosis13. M. Craniosynostosis Syndromes14. N. Other Skeletal Dysplasias15. O. Storage Disorders16. P. Connective Tissue Disorders17. Q. Hamartoses18. R. Ectodermal Dysplasias19. S. Environmental Agents20. T. Miscellaneous Syndromes21. U. Miscellaneous Sequences22. V. Spectra of Defects23. W. Miscellaneous AssociationsSECTION 2 Genetics, Genetic Counseling and Prevention24. Genetics, Genetic Counseling and PreventionSECTION 3 Minor Anomalies: Clues to More Serious Problems and to the Recognition of Malformation Syndromes25. Minor Anomalies: Clues to More Serious Problems and to the Recognition of Malformation SyndromesSECTION 4 Normal Standards26. Normal StandardsAppendixPattern of Malformation Differential Diagnosis by Anomaliees