Synopses & Reviews
This classic text, one of the true anchors of our clinical genetics publishing program, covers over 700 different genetic syndromes involving the head and neck, and it has established itself as the definitive, comprehensive work on the subject. The discussion covers the phenotype spectrum, epidemiology, mode of inheritance, pathogenesis, and clinical profile of each condition, all of which is accompanied by a wealth of illustrations. The authors are recognized leaders in the field, and their vast knowledge and strong clinical judgment will help readers make sense of this complex and burgeoning field.
Dr. Gorlin retires as editor in this edition and co-editor Raoul Hennekam takes over. Dr. Hennekam is regarded as one of the top dysmorphologists--and indeed one of the top clinical geneticists--in the world. Judith Allanson is new to the book but is a veteran OUP author and a widely respected geneticist, and Ian Krantz at Penn is a rising star in the field. Dr. Gorlin's name has always been closely associated with the book, and it has now become part of the title.
As in all fields of genetics, there has been an explosion in the genetics of dysmorphology syndromes, and the author has undertaken a complete updating of all chapters in light of the discoveries of the Human Genome Project and other ongoing advances, with some chapters requiring complete rewriting. Additional material has been added both in terms of new syndromes and in updating information on existing syndromes. The book will appeal to clinical geneticists, pediatricians, neurologists, head and neck surgeons, otolarynologists, and dentists. The 4th edition, which published in 2001, has sold 2,600 copies.
Review
"An excellent production by the authors and publishers." --Pediatric Endocrinology Reviews
"A standard of syndrome scholarship that will be hard to match. This statement is not made lightly as the field of medical genetics contains many important books but few classics...The Third Edition clearly belongs in the library of all medical genetics practitioners." -- American Journal of Medical Genetics
"A standard of syndrome scholarship that will be hard to match. This statement is not made lightly as the field of medical genetics contains many important books but few classics...The Third Edition clearly belongs in the library of all medical genetics practitioners." -- American Journal of Medical Genetics
"An excellent production by the authors and publishers." --Pediatric Endocrinology Reviews
"This edition will maintain its place as an essential medical geneticists and all whose work involves abnormalities affecting the head and neck. The comprehensive index, excellent cross referencing, and suggestions for differential diagnosis will continue to prove invaluable to clinical practice in many disciplines. This book cannot be recommended too highly." -- Journal of Medical Genetics
"This edition has been five years in the making and provides information that is current to June 2001, an astonishing task for a volume of this size...It brings in quantities of new molecular data and many new syndromes, all defined by a face that is unusual...those who count this book as part as their essential library will be pleased to see a very familiar layout with a continued dedication to excellent illustrations and comprehensive references...For those of you unfamiliar with this textbook, what a treat is in store."--Human Genetics
Synopsis
This encyclopedic work describes the phenotype spectrum, epidemiology, mode of inheritance, and pathogenesis of nearly 700 genetic syndromes. Uniquely comprehensive, it depicts the clinical features of all known genetic disorders affecting the head and neck and contains over 2300 illustrations. The authors make a clear distinction between doubtful and authentic cases, and bibliographies accompany each syndrome to encourage further research. This is a reorganized, completely rewritten and greatly expanded version of the second edition. It will be an invaluable guide for all clinicians dealing with patients who have head and neck syndromes.
About the Author
Robert J. Gorlin, D.D.S., M.S., D.Sc., is Regent's Professor of Oral Pathology and Genetics in the School of Dentistry, and Professor of Pathology, Pediatrics, Obstetrics and Gynecology, Otolaryngology and Dermatology in the School of Medicine, at the University of Minnesota. Helga V. Toriello, Ph.D., is the Director of Genetics Services at Butterworth Hospital, and Associate Professor in the Department of Pediatrics and Human Development at Michigan State University. M. Michael Cohen, Jr., D.M.D., Ph.D., is Professor of Oral Pathology, Pediatrics, Community Health and Epidemiology, Health Sciences Administration, Sociology and Social Anthropology at Dalhousie University.
Table of Contents
1. Deformations and Disruptions
2. Teratogenic Agents
3. Chromosomal Syndromes: Common and/or Well-Known Syndromes
4. Chromosomal Syndromes: Unusual Variants
5. Metabolic Disorders
6. Syndromes Affecting Bone: The Osteogenesis Imperfectas
7. Syndromes Affecting Bone: Chondrodysplasias and Chondrodystrophies
8. Syndromes Affecting Bone: Craniotubular Bone Disorders
9. Syndromes Affecting Bone: Other Skeletal Dysplasias
10. Proportionate Short Stature Syndromes
11. Overgrowth Syndromes and Postnatal Onset Obesity Syndromes
12. Hamartoneoplastic Syndromes
13. Syndromes Affecting the Skin and Mucosa
14. Syndromes with Craniosynostosis: General Aspects and Well-Known Syndromes
15. Syndromes with Craniosynostosis: Miscellaneous Syndromes
16. Syndromes of Abnormal Craniofacial Contour
17. Syndromes Affecting the Central Nervous System
18. Syndromes with Contractures
19. Branchial Arch and Oro-Acral Disorders
20. Orofacial Clefting Syndromes: General Aspects
21. Orofacial Clefting Syndromes: Common and Well-Known Syndromes
22. Orofacial Clefting Syndromes: Other Syndromes
23. Orofacial Clefting Syndromes: Associations
24. Syndromes with Unusual Facies: Well-Known Syndromes
25. Syndromes with Unusual Facies: Other Syndromes
26. Syndromes with Gingival/Periodontal Components
27. Syndromes with Unusual Dental Findings
28. Well-Known Miscellaneous Syndromes
29. Other Miscellaneous Syndromes
30. Syndromes of the Eye