The child with multiple birth defects:
Gespeichert in:
| 1. Verfasser: | |
|---|---|
| Format: | Buch |
| Sprache: | English |
| Veröffentlicht: |
New York [u.a.]
Oxford Univ. Press
1997
|
| Ausgabe: | 2. ed. |
| Schriftenreihe: | Oxford monographs on medical genetics
31 |
| Schlagworte: | |
| Online-Zugang: | Inhaltsverzeichnis |
| Beschreibung: | XIX, 267 S. Ill., graph. Darst. |
| ISBN: | 0195099265 |
Internformat
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| 245 | 1 | 0 | |a The child with multiple birth defects |c M. Michael Cohen |
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| 264 | 1 | |a New York [u.a.] |b Oxford Univ. Press |c 1997 | |
| 300 | |a XIX, 267 S. |b Ill., graph. Darst. | ||
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| 650 | 2 | |a Malformations multiples | |
| 650 | 4 | |a Abnormalities, Human |x Diagnosis | |
| 650 | 4 | |a Abnormalities, Multiple | |
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Datensatz im Suchindex
| _version_ | 1804126000260317184 |
|---|---|
| adam_text | Contents
1. Syndromes, Associations, and Sequences, 3
Syndrome Concepts, 3
Syndrome Definition, 4
Sequence and Syndrome, 5
Associations, 5
New Syndromes, 6
Syndrome Designations, 6
Population Definition of a Syndrome, 7
Fortuitous Concurrence of Anomalies, 12
2. Malformations, Deformations, and Disruptions, 15
Definitions, 15
Malformations, 16
Deformations, 22
Disruptions, 28
Comparison of Malformations, Deformations, and Disruptions, 37
Interrelationships Between Malformations, Deformations,
and Disruptions, 44
More Definitions, 46
Developmental Field Defects, 47
Other Definitions, 49
3. Minor Anomalies, 55
Clinical Utility, 55
Review of Problems, 58
4. Facial Dysmorphology, 62
Facial Gestalt and Syndrome Diagnosis, 62
Unusual Craniofacial Anomalies and the Tessier Classification, 64
Measurement, Craniofacial Evaluation, and the Dysmorphic Face, 66
5. Guide to Physical Measurements, 86
Useful Physical Measurements, 86
Assessment of Metric Studies, 87
Hi CONTENTS
6. Genetics, 91
Cytogenetics, 91
Chromosomal Anomalies, 95
Cytogenetic Studies, 98
Contiguous Gene Syndromes, 100
Developmental Effects of Aneuploidy, 101
Single Gene Inheritance, 104
Gene Mapping, 112
Genetic Heterogeneity, 114
Mosaicism, 115
Uniparental Disomy, 116
Genomic Imprinting, 116
Imprinting, Uniparental Disomy, and the Beckwith Wiedemann
Syndrome, 116
Mitochondrial Inheritance, 117
Anticipation, 117
Sporadicity , 117
Variant Additive Patterns, 118
Multifactorial Inheritance, 120
Chance and Single Gene Stochastic Model, 120
7. Teratogens, 123
Adverse Environmental Factors and the Genotype, 123
Timing of Exposure, 123
Mechanisms and Pathogenesis, 125
Nature of Teratogenic Agents, 125
Teratogenic Manifestations of Deviant Development, 126
Dosage, 127
Human Teratogens, 130
8. Syndrome Classifications, 144
Etiologic Classifications, 144
Embryonic Classifications, 144
Classification by Germ Layers, 145
Monothetic Classifications, 145
Polythetic Classifications, 145
Mixed Classifications, 147
Syndrome Prototypes, 149
9. Syndrome Delineation, 151
Known and Unknown Genesis Syndromes, 151
Comments on the Process of Syndrome Delineation, 158
Pace of Syndrome Delineation, 160
Significance of Syndrome Delineation, 160
CONTENTS
10. Etiologic and Pathogenetic Heterogeneity, 164
Models of Etiology, Pathogenesis, and the Phenotype, 164
Some Examples of Etiologic and Pathogenetic Heterogeneity, 168
Robin Sequence, 168
Hemifacial Microsoma, 171
Craniosynostosis, 178
11. Approach to Syndrome Diagnosis, 197
History, 197
Clinical Assessment, 199
Diagnosis: Definitive, Probable, Possible, or Unknown, 203
Some Hypothetical Problems in Syndrome Diagnosis, 204
12. Dysmorphic Growth and Development, 208
Growth Deficiency, 208
Growth Restriction, 209
Osteochondrodysplasias, 209
Overgrowth, 214
Asymmetry, 223
Radiologic Assessment in Dysmorphology, 228
13. Mental Deficiency, 237
14. Psychosocial Considerations, 240
Parents of Malformed Children, 241
Malformed Children, 243
General Problems of Adaptation, 245
Specific Problems of Adaptation, 247
Studies of Specific Syndromes, 252
Critique of Psychosocial Studies, 252
Index, 259
|
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| dewey-tens | 610 - Medicine and health |
| discipline | Medizin |
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| id | DE-604.BV011481594 |
| illustrated | Illustrated |
| indexdate | 2024-07-09T18:10:29Z |
| institution | BVB |
| isbn | 0195099265 |
| language | English |
| oai_aleph_id | oai:aleph.bib-bvb.de:BVB01-007724122 |
| oclc_num | 34080871 |
| open_access_boolean | |
| owner | DE-20 DE-19 DE-BY-UBM |
| owner_facet | DE-20 DE-19 DE-BY-UBM |
| physical | XIX, 267 S. Ill., graph. Darst. |
| publishDate | 1997 |
| publishDateSearch | 1997 |
| publishDateSort | 1997 |
| publisher | Oxford Univ. Press |
| record_format | marc |
| series | Oxford monographs on medical genetics |
| series2 | Oxford monographs on medical genetics |
| spelling | Cohen, Meyer Michael 1937- Verfasser (DE-588)123383684 aut The child with multiple birth defects M. Michael Cohen 2. ed. New York [u.a.] Oxford Univ. Press 1997 XIX, 267 S. Ill., graph. Darst. txt rdacontent n rdamedia nc rdacarrier Oxford monographs on medical genetics 31 Enfant Genetica humana e medica larpcal Malformations multiples Abnormalities, Human Diagnosis Abnormalities, Multiple Genetic disorders Diagnosis Syndromes in children Diagnosis Kind (DE-588)4030550-8 gnd rswk-swf Geburtsfehler (DE-588)4156181-8 gnd rswk-swf Missbildung (DE-588)4039561-3 gnd rswk-swf Geburtsfehler (DE-588)4156181-8 s DE-604 Kind (DE-588)4030550-8 s Missbildung (DE-588)4039561-3 s 1\p DE-604 Oxford monographs on medical genetics 31 (DE-604)BV000008339 31 HBZ Datenaustausch application/pdf http://bvbr.bib-bvb.de:8991/F?func=service&doc_library=BVB01&local_base=BVB01&doc_number=007724122&sequence=000002&line_number=0001&func_code=DB_RECORDS&service_type=MEDIA Inhaltsverzeichnis 1\p cgwrk 20201028 DE-101 https://d-nb.info/provenance/plan#cgwrk |
| spellingShingle | Cohen, Meyer Michael 1937- The child with multiple birth defects Oxford monographs on medical genetics Enfant Genetica humana e medica larpcal Malformations multiples Abnormalities, Human Diagnosis Abnormalities, Multiple Genetic disorders Diagnosis Syndromes in children Diagnosis Kind (DE-588)4030550-8 gnd Geburtsfehler (DE-588)4156181-8 gnd Missbildung (DE-588)4039561-3 gnd |
| subject_GND | (DE-588)4030550-8 (DE-588)4156181-8 (DE-588)4039561-3 |
| title | The child with multiple birth defects |
| title_auth | The child with multiple birth defects |
| title_exact_search | The child with multiple birth defects |
| title_full | The child with multiple birth defects M. Michael Cohen |
| title_fullStr | The child with multiple birth defects M. Michael Cohen |
| title_full_unstemmed | The child with multiple birth defects M. Michael Cohen |
| title_short | The child with multiple birth defects |
| title_sort | the child with multiple birth defects |
| topic | Enfant Genetica humana e medica larpcal Malformations multiples Abnormalities, Human Diagnosis Abnormalities, Multiple Genetic disorders Diagnosis Syndromes in children Diagnosis Kind (DE-588)4030550-8 gnd Geburtsfehler (DE-588)4156181-8 gnd Missbildung (DE-588)4039561-3 gnd |
| topic_facet | Enfant Genetica humana e medica Malformations multiples Abnormalities, Human Diagnosis Abnormalities, Multiple Genetic disorders Diagnosis Syndromes in children Diagnosis Kind Geburtsfehler Missbildung |
| url | http://bvbr.bib-bvb.de:8991/F?func=service&doc_library=BVB01&local_base=BVB01&doc_number=007724122&sequence=000002&line_number=0001&func_code=DB_RECORDS&service_type=MEDIA |
| volume_link | (DE-604)BV000008339 |
| work_keys_str_mv | AT cohenmeyermichael thechildwithmultiplebirthdefects |