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 86
Pagina x
... phenotype analysis. During evolution development became severely constrained into a remarkably impoverished set of fi- nal morphogenetic outcomes which, if abnormal, must all be highly heterogenous given the ratio of tens of thousands ...
... phenotype analysis. During evolution development became severely constrained into a remarkably impoverished set of fi- nal morphogenetic outcomes which, if abnormal, must all be highly heterogenous given the ratio of tens of thousands ...
Pagina 32
... phenotype ( 8,23 ) . In the case of the former , there appears to be a mutation in arylsulfatase E ( 4a ) ; in Warfarin embryopathy , it results from competitive inhibition by Warfarin ( 23 ) . Thus , Warfarin embryopathy is a phenocopy ...
... phenotype ( 8,23 ) . In the case of the former , there appears to be a mutation in arylsulfatase E ( 4a ) ; in Warfarin embryopathy , it results from competitive inhibition by Warfarin ( 23 ) . Thus , Warfarin embryopathy is a phenocopy ...
Pagina 34
... phenotypic chondrodysplasia punctata . J Pediatr 88 : 506–508 , 1976 . 19. Pauli RM et al : Association of congenital deficiency of multiple vitamin K - dependent coagulation factors and the phenotype of the warfarin embryopathy : Clues ...
... phenotypic chondrodysplasia punctata . J Pediatr 88 : 506–508 , 1976 . 19. Pauli RM et al : Association of congenital deficiency of multiple vitamin K - dependent coagulation factors and the phenotype of the warfarin embryopathy : Clues ...
Pagina 51
... phenotype mapped to 5p15.2 (11). The δ-catenin gene is deleted. More proximal deletions do not produce the phenotype (5,14). The greater the deletion, the lower the intelligence, height, and weight and the more severe the microcephaly ...
... phenotype mapped to 5p15.2 (11). The δ-catenin gene is deleted. More proximal deletions do not produce the phenotype (5,14). The greater the deletion, the lower the intelligence, height, and weight and the more severe the microcephaly ...
Pagina 53
... phenotype correlation : Mosaic tri- somy 8 and partial trisomies of different segments of chromosome 8. Hum Genet 41 : 363-367 , 1978 . 15. Rodewald A et al : Dermatoglyphic patterns in trisomy 8 syndrome . Clin Genet 12 : 28-38 , 1977 ...
... phenotype correlation : Mosaic tri- somy 8 and partial trisomies of different segments of chromosome 8. Hum Genet 41 : 363-367 , 1978 . 15. Rodewald A et al : Dermatoglyphic patterns in trisomy 8 syndrome . Clin Genet 12 : 28-38 , 1977 ...
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