Syndromes of the Head and NeckOxford University Press, 27 set 2001 - 1344 pagine 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. |
Dall'interno del libro
Risultati 1-5 di 88
Pagina xvii
... Manifestations, 121 Diagnosis, 122 Laboratory Aids, 122 Mucopolysaccharidosis I-S (Scheie Syndrome), 124 Facies, 124 Skeletal System, 124 Other Findings, 124 Oral Manifestations, 124 Laboratory Aids, 124 Mucopolysaccharidosis I-H/S ...
... Manifestations, 121 Diagnosis, 122 Laboratory Aids, 122 Mucopolysaccharidosis I-S (Scheie Syndrome), 124 Facies, 124 Skeletal System, 124 Other Findings, 124 Oral Manifestations, 124 Laboratory Aids, 124 Mucopolysaccharidosis I-H/S ...
Pagina xviii
... Manifestations, 138 Differential Diagnosis, 138 Laboratory Findings, 138 Mucopolysaccharidosis IX, 139 Oligosaccharidoses and Related Disorders, 139 GM1 Gangliosidosis, Type 1, 139 Facies, 139 Skeletal System, 139 Central Nervous System ...
... Manifestations, 138 Differential Diagnosis, 138 Laboratory Findings, 138 Mucopolysaccharidosis IX, 139 Oligosaccharidoses and Related Disorders, 139 GM1 Gangliosidosis, Type 1, 139 Facies, 139 Skeletal System, 139 Central Nervous System ...
Pagina xix
... Manifestations, 163 Pathology, 163 Diagnosis and Laboratory Aids, 163 Genetics, 165 Craniofacial Findings, 165 ... Manifestations, 179 Cardiovascular Involvement, 180 Joint Abnormalities, 180 Skeletal Manifestations, 180 Oral ...
... Manifestations, 163 Pathology, 163 Diagnosis and Laboratory Aids, 163 Genetics, 165 Craniofacial Findings, 165 ... Manifestations, 179 Cardiovascular Involvement, 180 Joint Abnormalities, 180 Skeletal Manifestations, 180 Oral ...
Pagina xx
... Manifestations, 223 Laboratory Aids, 223 Chondrodysplasia Punctata, Rhizomelic Type, 224 Facies, 224 Eyes, 224 Skin, 224 Musculoskeletal Alterations, 224 Oral Manifestations, 225 Other, 225 Laboratory Aids, 225 Chondrodysplasia Punctata ...
... Manifestations, 223 Laboratory Aids, 223 Chondrodysplasia Punctata, Rhizomelic Type, 224 Facies, 224 Eyes, 224 Skin, 224 Musculoskeletal Alterations, 224 Oral Manifestations, 225 Other, 225 Laboratory Aids, 225 Chondrodysplasia Punctata ...
Pagina xxii
... Manifestations, 323 Differential Diagnosis, 323 Laboratory Aids, 323 Mandibuloacral Dysplasia, 325 Facies, 325 Musculoskeletal, 325 Skin, 325 Oral Manifestations, 325 Other Findings, 326 Differential Diagnosis, 326 Laboratory Findings ...
... Manifestations, 323 Differential Diagnosis, 323 Laboratory Aids, 323 Mandibuloacral Dysplasia, 325 Facies, 325 Musculoskeletal, 325 Skin, 325 Oral Manifestations, 325 Other Findings, 326 Differential Diagnosis, 326 Laboratory Findings ...
Sommario
1 | |
14 | |
35 | |
76 | |
5 Metabolic Disorders | 119 |
The Osteogenesis Imperfectas | 178 |
Chondrodysplasias and Chondrodystrophies | 192 |
Craniotubular Bone Disorders | 281 |
18 Syndromes with Contractures | 765 |
19 Branchial Arch and OralAcral Disorders | 790 |
General Aspects | 850 |
Common and WellKnown Syndromes | 877 |
Other Syndromes | 912 |
Associations | 966 |
WellKnown Syndromes | 977 |
Other Syndromes | 1039 |
Other Skeletal Dysplasias | 305 |
10 Proportionate Short Stature Syndromes | 366 |
11 Overgrowth Syndromes and Postnatal Onset Obesity Syndromes | 399 |
12 Hamartoneoplastic Syndromes | 428 |
13 Syndromes Affecting the Skin and Mucosa | 494 |
General Aspects and WellKnown Syndromes | 654 |
Miscellaneous Syndromes | 671 |
16 Syndromes of Abnormal Craniofacial Contour | 704 |
17 Syndromes Affecting the Central Nervous System | 724 |
26 Syndromes with GingivalPeriodontal Components | 1093 |
27 Syndromes with Unusual Dental Findings | 1107 |
28 WellKnown Miscellaneous Syndromes | 1133 |
29 Other Miscellaneous Syndromes | 1152 |
30 Syndromes of the Eye | 1181 |
Appendix | 1215 |
Index | 1229 |
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Parole e frasi comuni
abnormalities achondroplasia Acta agenesis Ann Genet anomalies Arch arm of chromosome associated autosomal dominant autosomal recessive basal cell carcinoma bilateral Birth Defects Child chondrodysplasia punctata cleft palate Clin Genet clinical Cohen congenital heart cranial Craniofacial cysts deficiency deletion Dermatol described disease disorder distal drome dwarfism embryopathy epiphyses etal facial facies fetal findings gene Gorlin growth hearing loss Hum Genet hypertelorism hypophosphatasia hypoplasia hypoplastic infants inheritance Kinderheilkd Lange syndrome lesions lethal limb long bones males malformations manifestations Marfan syndrome maternal Med Genet mental retardation metaphyseal microcephaly micrognathia mild molecular mosaicism mucopolysaccharidosis multiple mutations nasal bridge neonatal normal noted occur Ophthalmol osteogenesis imperfecta osteopetrosis palpebral fissures Partial trisomy Pathol patients Pediatr Pediatr Radiol phalanges phenotype philtrum polyposis Prader-Willi syndrome Prenatal diagnosis radiographic renal reported Rubinstein-Taybi syndrome severe short stature sibs skin teeth thanatophoric dysplasia tissue translocation trisomy 18 tumor vertebral X-linked