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 73
Pagina 15
... palpebral fissuresa Short, upturnedb Hypoplastic philtruma Hypoplasticb ... lateral palatine ridges Murmurs, especially in early childhood, usually atrial ... fissures, indistinct philtrum, hirsutism, short nose, and thin upper lip. (B) ...
... palpebral fissuresa Short, upturnedb Hypoplastic philtruma Hypoplasticb ... lateral palatine ridges Murmurs, especially in early childhood, usually atrial ... fissures, indistinct philtrum, hirsutism, short nose, and thin upper lip. (B) ...
Pagina 28
... palpebral fissures (65%), dysmorphic pinnae (60%), narrow bifrontal diameter (50%), abnormal scalp hair pattern (45%), thin upper lip and smooth philtrum (35%), small nose (35%), downturned corners of the mouth (33%), and large anterior ...
... palpebral fissures (65%), dysmorphic pinnae (60%), narrow bifrontal diameter (50%), abnormal scalp hair pattern (45%), thin upper lip and smooth philtrum (35%), small nose (35%), downturned corners of the mouth (33%), and large anterior ...
Pagina 29
... palpebral fis- sures, ear anomalies, thin upper lip, and abnormal scalp hair patterning. (C) Microcephaly, short palpebral fissures, midfacial underdevelopment in bifrontal diameter, abnormal hair patterning, and large fontanel. The ...
... palpebral fis- sures, ear anomalies, thin upper lip, and abnormal scalp hair patterning. (C) Microcephaly, short palpebral fissures, midfacial underdevelopment in bifrontal diameter, abnormal hair patterning, and large fontanel. The ...
Pagina 36
... palpebral fissures 80 Anomalous auricles 60 Dysplasia of pelvis 70 Brachymesophalangy of fifth finger 60 Single palmar crease 45 A B C D E Fig. 3–1. Trisomy 21 syndrome. ( 83 ) t ( 21q22q ) t ( 21qOther " ) ( 17 ) 5 a For example ...
... palpebral fissures 80 Anomalous auricles 60 Dysplasia of pelvis 70 Brachymesophalangy of fifth finger 60 Single palmar crease 45 A B C D E Fig. 3–1. Trisomy 21 syndrome. ( 83 ) t ( 21q22q ) t ( 21qOther " ) ( 17 ) 5 a For example ...
Pagina 38
... palpebral fissures 79 Epicanthic folds 48 Brushfield spots 53 Strabismus 22 11 Nystagmus ERSAL Ears Dysplastic 53 Absent lobules 70 Mouth Open mouth Fissured lips 3335 CHIEF 61 56 Protruding tongue 42 Macroglossia 43 Furrowing of tongue ...
... palpebral fissures 79 Epicanthic folds 48 Brushfield spots 53 Strabismus 22 11 Nystagmus ERSAL Ears Dysplastic 53 Absent lobules 70 Mouth Open mouth Fissured lips 3335 CHIEF 61 56 Protruding tongue 42 Macroglossia 43 Furrowing of tongue ...
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