基本説明
Updated with the latest research from the Human Genome Project, this text covers over 700 different genetic syndromes involving the head and neck, and has established itself as the definitive, comprehensive work on the subject. Previous ed.: 2001.
Full Description
This classic text covers over 700 different genetic syndromes involving the head and neck, and 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.
As in all fields of genetics, there has been an explosion in the genetics of dysmorphology syndromes, and the authors have completely updated all chapters in light of the discoveries of the Human Genome Project and other ongoing advances. New syndromes have been added and information on existing syndromes has been revised.
Contents
1: Deformations and Disruptions
2: Teratogenic Agents
3: Chromosomal Syndromes: Common and/or Well-Known Syndromes
4: Chromosal Syndromes: Unusual Variants
5: Metabolic Disorders
6: Syndromes Affecting Bone: Disorders with Decreased Bone Density
7: Syndromes Affecting Bone: Disorders with Increase Bone Density
8: Syndromes Affecting Bone: Lethal Skeletal Dysplasias
9: Syndromes Affecting Bone: Skeletal Dysplasias with Disproportionate Short Stature
10: Syndromes Affecting Bone: Other Skeletal Dysplasias
11: Proportionate Short Stature Syndromes
12: Overgrowth Syndromes and Post-natal Onset Obesity Syndromes
13: Hamartoneoplastic Syndromes
14: Syndromes Affecting the Skin and Mucosa
15: Syndromes with Craniosynostosis: General Aspects and Well-Known Syndromes
16: Syndromes with Craniosynostosis: Miscellaneous Syndromes
17: Syndromes of Abnormal Craniofacial Contour
18: Syndromes Affecting the Central Nervous System
19: Syndromes with Contracture
20: Branchial Arch and Oral-Acral Disorders
21: Orofacial Clefting Syndromes: General Aspects
22: Orofacial Clefting Syndromes: Common and Well-Known Syndromes
23: Orofacial Clefting Syndromes: Other Syndromes
24: Orofacial Clefting Syndromes: Associations
25: Syndromes with Unusual Facies: Well-Known Syndromes
26: Syndromes with Unusual Facies: Other Syndromes
27: Syndromes with Gingival/Periodontal Components
28: Syndromes with Unusual Dental Findings
29: Well-Known Miscellaneous Syndromes
30: Other Miscellaneous Syndromes
31: Syndromes of the Eye
