Preventive management of children with congenital anomalies and syndromes:
Gespeichert in:
| Hauptverfasser: | , |
|---|---|
| Format: | Buch |
| Sprache: | English |
| Veröffentlicht: |
Cambridge [u.a.]
Cambridge Univ. Press
2000
|
| Ausgabe: | 1. publ. |
| Schlagworte: | |
| Online-Zugang: | Inhaltsverzeichnis |
| Beschreibung: | XXVI, 539 S. Ill., graph. Darst. 1 CD (12 cm) |
| ISBN: | 0521776732 |
Internformat
MARC
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| 245 | 1 | 0 | |a Preventive management of children with congenital anomalies and syndromes |c Golder N. Wilson and W. Carl Cooley |
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| 264 | 1 | |a Cambridge [u.a.] |b Cambridge Univ. Press |c 2000 | |
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| 650 | 4 | |a Abnormalities |x diagnosis | |
| 650 | 4 | |a Abnormalities |x therapy | |
| 650 | 4 | |a Developmental disabilities |x Complications |x Prevention | |
| 650 | 4 | |a Genetic disorders in children |x Complications |x Prevention | |
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Datensatz im Suchindex
| _version_ | 1804127990729146368 |
|---|---|
| adam_text | Contents
Preface page xi
How to use this book xi
Which disorders are included? xii
Rationale for preventive guidelines xii
Types of preventive guidelines xiii
Validation of preventive management guidelines xiv
Acknowledgments xv
Glossary of genetic and molecular terms xxi
Part I Approach to the child with special needs
1 Approach to the child with genetic disease 3
Categories of genetic disease 3
Approach to genetic counseling 6
Diagnostic approach to the child with congenital anomalies 8
Diagnostic approach to the child with metabolic disease 12
The laboratory diagnosis of genetic/metabolic disease 15
2 Approach to the child with a developmental disability 19
Definitions and epidemiology 20
Recognizing developmental differences in a primary care setting 22
Chronic condition management in primary care 27
Supporting the families of children with disabilities 28
3 Approach to preventive management for children with disabilities 31
General considerations in preventive medicine 31
Defining the effectiveness of preventive measures 36
Designing a preventive care plan for the child with disability 40
Part II The management of selected single congenital anomalies and
associations
4 Congenital anomalies associated with developmental disability 49
Cerebral palsy and congenital brain defects 49
Hydrocephalus 58
Spina Bifida 62
5 Single anomalies, sequences, and associations 79
Single anomalies and sequences 79
Associations 85
VATER association 86
CHARGE association 91
6 Teratogenic syndromes 103
Less common syndromes 103
Fetal alcohol syndrome 110
Fetal hydantoin syndrome 115
Diabetic embryopathy 118
Part III Chromosomal syndrome
7 Autosomal syndromes 135
Less common aneuploidies 135
Trisomy 13/18 142
Down syndrome 146
8 Sex chromosome aneuploidy and X linked mental retardation
syndromes 161
Sex chromosome aneuploidy 161
Turner syndrome 161
Klinefelter syndrome 167
Less common sex chromosome aneuploidies 169
X linked mental retardation syndromes 171
The fragile X syndrome 174
9 Chromosome microdeletion syndromes 191
Rare contiguous gene deletion syndromes 191
Williams syndrome 195
Prader—Willi syndrome 198
Shprintzen syndrome and the Del(22q) spectrum 203
Part IV Syndromes remarkable for altered growth
10 Syndromes with proportionate growth failure as a primary feature 221
Rarer disorders 222
Noonan syndrome 228
Brachmann de Lange syndrome 232
11 Syndromes with disproportionate growth failure (Dwarfism) 245
Less common skeletal dysplasias 245
Achondroplasia 253
Osteogenesis imperfecta 256
12 Overgrowth syndromes 269
Less common growth disorders 269
Beckwith Wiedemann syndrome 273
Sotos syndrome 277
13 Hamartosis syndromes 289
Less common syndromes 289
Neurofibromatosis 1 298
Tuberous sclerosis 302
Part V Management of craniofacial syndromes
14 Craniosynostosis syndromes 317
Less common syndromes 318
Saethre Chotzen syndrome 323
15 Branchial arch and face/limb syndromes 331
Branchial arch syndromes 331
Goldenhar syndrome and related defects 336
Face/limb syndromes 340
Part VI Management of connective tissue and integumentary syndromes
16 Connective tissue disorders 355
Rarer connective tissue disorders 357
Marfan syndrome 362
Ehlers Danlos syndrome, types IV, VI, and VII 366
Ehlers Danlos syndrome types l lll 367
17 Integumentary syndromes 379
Ectodermal dysplasias 379
Other pigmentary disorders 385
Disorders with telangiectasias 389
Disorders with radiation sensitivity and/or rapid aging 391
Part VII The management of neurologic and neurodegenerative syndromes
18 Neurologic syndromes including the arthrogryposes 395
Pain insensitivity syndromes 395
Syndromes with brain anomalies 398
Syndromes with congenital contractures (arthrogryposes) 400
Arthrogryposis syndromes 404
Part VIII Management of neurodegenerative metabolic disorders
19 Organellar and miscellaneous neurodegenerative disorders 413
Lysosomal enzyme deficiencies 414
Lysosomal diseases: Lipidoses and mucolipidoses (oligosaccharidoses) 414
Lysosomal diseases: mucopolysaccharidoses 420
Mitochondrial disorders 425
Peroxisomal diseases 430
Miscellaneous metabolic disorders 434
20 Metabolic dysplasias susceptible to dietary treatment 445
Disorders of carbohydrate metabolism 446
Glycogen storage diseases 449
Disorders of amino acid metabolism 453
References 463
Index 527
Colour plates between pp. 230 and 231
|
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| dewey-sort | 3618.92 242 |
| dewey-tens | 610 - Medicine and health |
| discipline | Biologie Medizin |
| edition | 1. publ. |
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| id | DE-604.BV013229912 |
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| indexdate | 2024-07-09T18:42:08Z |
| institution | BVB |
| isbn | 0521776732 |
| language | English |
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| physical | XXVI, 539 S. Ill., graph. Darst. 1 CD (12 cm) |
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| spelling | Wilson, Golder Verfasser aut Preventive management of children with congenital anomalies and syndromes Golder N. Wilson and W. Carl Cooley 1. publ. Cambridge [u.a.] Cambridge Univ. Press 2000 XXVI, 539 S. Ill., graph. Darst. 1 CD (12 cm) txt rdacontent n rdamedia nc rdacarrier Abnormalities diagnosis Abnormalities therapy Developmental disabilities Complications Prevention Genetic disorders in children Complications Prevention Entwicklungsstörung (DE-588)4014966-3 gnd rswk-swf Kind (DE-588)4030550-8 gnd rswk-swf Erbkrankheit (DE-588)4015106-2 gnd rswk-swf Erbkrankheit (DE-588)4015106-2 s Kind (DE-588)4030550-8 s DE-604 Entwicklungsstörung (DE-588)4014966-3 s Cooley, William Carl Verfasser aut HBZ Datenaustausch application/pdf http://bvbr.bib-bvb.de:8991/F?func=service&doc_library=BVB01&local_base=BVB01&doc_number=009016727&sequence=000002&line_number=0001&func_code=DB_RECORDS&service_type=MEDIA Inhaltsverzeichnis |
| spellingShingle | Wilson, Golder Cooley, William Carl Preventive management of children with congenital anomalies and syndromes Abnormalities diagnosis Abnormalities therapy Developmental disabilities Complications Prevention Genetic disorders in children Complications Prevention Entwicklungsstörung (DE-588)4014966-3 gnd Kind (DE-588)4030550-8 gnd Erbkrankheit (DE-588)4015106-2 gnd |
| subject_GND | (DE-588)4014966-3 (DE-588)4030550-8 (DE-588)4015106-2 |
| title | Preventive management of children with congenital anomalies and syndromes |
| title_auth | Preventive management of children with congenital anomalies and syndromes |
| title_exact_search | Preventive management of children with congenital anomalies and syndromes |
| title_full | Preventive management of children with congenital anomalies and syndromes Golder N. Wilson and W. Carl Cooley |
| title_fullStr | Preventive management of children with congenital anomalies and syndromes Golder N. Wilson and W. Carl Cooley |
| title_full_unstemmed | Preventive management of children with congenital anomalies and syndromes Golder N. Wilson and W. Carl Cooley |
| title_short | Preventive management of children with congenital anomalies and syndromes |
| title_sort | preventive management of children with congenital anomalies and syndromes |
| topic | Abnormalities diagnosis Abnormalities therapy Developmental disabilities Complications Prevention Genetic disorders in children Complications Prevention Entwicklungsstörung (DE-588)4014966-3 gnd Kind (DE-588)4030550-8 gnd Erbkrankheit (DE-588)4015106-2 gnd |
| topic_facet | Abnormalities diagnosis Abnormalities therapy Developmental disabilities Complications Prevention Genetic disorders in children Complications Prevention Entwicklungsstörung Kind Erbkrankheit |
| url | http://bvbr.bib-bvb.de:8991/F?func=service&doc_library=BVB01&local_base=BVB01&doc_number=009016727&sequence=000002&line_number=0001&func_code=DB_RECORDS&service_type=MEDIA |
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