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 81
Pagina xxv
... Renal Abnormalities, 482 Other Abnormalities, 482 Differential Diagnosis, 482 Schimmelpenning Syndrome (formerly “Epidermal Nevus Syndrome”), 484 Cutaneous Manifestations, 485 Central Nervous System, 485 Ocular Defects, 485 Skeletal ...
... Renal Abnormalities, 482 Other Abnormalities, 482 Differential Diagnosis, 482 Schimmelpenning Syndrome (formerly “Epidermal Nevus Syndrome”), 484 Cutaneous Manifestations, 485 Central Nervous System, 485 Ocular Defects, 485 Skeletal ...
Pagina xxxv
... Renal System, 896 Diagnosis, 896 Femoral Hypoplasia-Unusual Facies Syndrome (Femoral Facial Syndrome), 897 Fryns Syndrome (Cleft Palate, Diaphragmatic Hernia, Coarse Facies, and Acral Aplasia), 899 Craniofacial Findings, 900 Chest and ...
... Renal System, 896 Diagnosis, 896 Femoral Hypoplasia-Unusual Facies Syndrome (Femoral Facial Syndrome), 897 Fryns Syndrome (Cleft Palate, Diaphragmatic Hernia, Coarse Facies, and Acral Aplasia), 899 Craniofacial Findings, 900 Chest and ...
Pagina xli
... Renal and M ̈ullerian Hypoplasia, and Severe Somatic and Mental Retardation, 1085 Unusual Facies, Vitiligo, Canities, and Progressive Spastic Paraplegia, 1085 Unusual Facies-Serpentine Fibula-Polycystic Kidney Syndrome (ter Haar ...
... Renal and M ̈ullerian Hypoplasia, and Severe Somatic and Mental Retardation, 1085 Unusual Facies, Vitiligo, Canities, and Progressive Spastic Paraplegia, 1085 Unusual Facies-Serpentine Fibula-Polycystic Kidney Syndrome (ter Haar ...
Pagina 1
... renal agenesis as part of Potter sequence. When one ear is exposed to more pressure than the other, they may be asymmetric. Occasionally, with prolonged breech presentation, particularly when associated with Table 1–1. Causes of ...
... renal agenesis as part of Potter sequence. When one ear is exposed to more pressure than the other, they may be asymmetric. Occasionally, with prolonged breech presentation, particularly when associated with Table 1–1. Causes of ...
Pagina 4
... renal agenesis ( 110,113 ) , cystic dysplasia ( 10 ) , severe polycystic kidneys ( 43,60,103,114 ) , urinary tract obstruction ( 4,79 ) , or amnionic leakage ( 20,79,150 ) . In addition to di- verse renal pathology , more extensive ...
... renal agenesis ( 110,113 ) , cystic dysplasia ( 10 ) , severe polycystic kidneys ( 43,60,103,114 ) , urinary tract obstruction ( 4,79 ) , or amnionic leakage ( 20,79,150 ) . In addition to di- verse renal pathology , more extensive ...
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 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 skull teeth thanatophoric dysplasia tissue translocation trisomy 18 tumor X-linked Zellweger