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 75
Pagina 12
... reported that 1 in 1300 pregnancies had amnionic rupture sequence, and Byrne et al (6) gave a frequency of one in 5000–15,000 births, but indicated that the condition was relatively common among abortuses. On the basis of ultrasound at ...
... reported that 1 in 1300 pregnancies had amnionic rupture sequence, and Byrne et al (6) gave a frequency of one in 5000–15,000 births, but indicated that the condition was relatively common among abortuses. On the basis of ultrasound at ...
Pagina 36
... reported in the brain and spinal cord by Benda ( 10 ) . Pi et al ( 132 ) and Urioste et al ( 180 ) reported holoprosencephaly in association with tri- somy 21 syndrome . Moyamoya disease occurs with somewhat increased frequency ( 43a ) ...
... reported in the brain and spinal cord by Benda ( 10 ) . Pi et al ( 132 ) and Urioste et al ( 180 ) reported holoprosencephaly in association with tri- somy 21 syndrome . Moyamoya disease occurs with somewhat increased frequency ( 43a ) ...
Pagina 39
... reported and these are extensively reviewed by several authors ( 57,160 ) . It has been noted that there may be a greater association with anomalies such as polydactyly and omphalocele than that observed in the general population ...
... reported and these are extensively reviewed by several authors ( 57,160 ) . It has been noted that there may be a greater association with anomalies such as polydactyly and omphalocele than that observed in the general population ...
Pagina 43
... reported (21). Cardiovascular system. Cardiovascular anomalies are common and autopsy studies have shown that more than one type may be present in the same individual. Those most commonly observed are patent ductus arteriosus ...
... reported (21). Cardiovascular system. Cardiovascular anomalies are common and autopsy studies have shown that more than one type may be present in the same individual. Those most commonly observed are patent ductus arteriosus ...
Pagina 67
... reported by Robinson and de la Chapelle ( 15 ) . Judisch and Patil ( 10 ) described a case with bilateral retinoblastoma and pinealoma . In general , birth weights tend to be low but within normal limits . Height percentiles increase ...
... reported by Robinson and de la Chapelle ( 15 ) . Judisch and Patil ( 10 ) described a case with bilateral retinoblastoma and pinealoma . In general , birth weights tend to be low but within normal limits . Height percentiles increase ...
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 |
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