Syndrome Identification For Speech-Language Pathology

An Illustrated Pocketguide

By: Robert J. Shprintzen

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Paperback | 19 November 1999 | Edition Number 1

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This book provides a synopsis of the important communicative impairments associated with 160 multiple anomaly syndromes likely to be encountered by speech-language pathologists. It describes the types of speech, voice, resonance, language, and cognitive disorders associated with each syndrome and provides up-to-date information about the etiology of each of the disorders. Summarized for each entry are a listing of the anomalies associated with the syndromes, the natural history of the disorder, and the treatment prognosis, which allows proper choices of treatment plans, and differential diagnosis. This handy pocket reference is liberally illustrated with examples of the many syndromes described.

Industry Reviews

-This is an outstanding reference for syndromes that impact on communication. It contains many rare syndromes that typically are not discussed in the more standard texts on human malformation. The book has an excellent index that makes it easy to use. The descriptions of accompanying speech and language disorders are succinct and in most cases useful. This book is recommended to professionals that need a reference for syndromes that affect communication abilities.- -- Thomas Guyette, Ph.D. and Richard Dineen, M.S., Cleft Palate Craniofacial Journal

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Non-Fiction Medicine Other Branches of Medicine Therapy & Therapeutics Speech & Language Disorders & Therapy Nursing & Ancillary Services Clinical & Internal Medicine Otorhinolaryngology ENT Pathology Language & Linguistics Language Learning & Teaching Specific Skills of Learning Language

Speaking & Pronounciation Skills

Preface	p. ix
Acknowledgments	p. xii
How to Use This PocketGuide	p. xiii
Syndromes With Speech, Language and Cognitive Impairments
Aarskog Syndrome	p. 1
Aase-Smith Syndrome	p. 4
Abruzzo-Erickson Syndrome	p. 6
Achondroplasia	p. 8
Acrocallosal Syndrome	p. 11
Acrodysostosis	p. 14
AEC Syndrome	p. 16
Aicardi Syndrome	p. 18
Alagille Syndrome	p. 20
Albers-Schonberg Syndrome	p. 23
Angelman Syndrome	p. 25
Antley-Bixler Syndrome	p. 28
Apert Syndrome	p. 31
Ascher Syndrome	p. 35
Ataxia-telangiectasia Syndrome	p. 37
Baller-Gerold Syndrome	p. 40
Bamatter Syndrome	p. 43
Bannayan-Zonana Syndrome	p. 45
Bardet-Biedl Syndrome, Type 1	p. 48
Bardet-Biedl Syndrome, Type 2	p. 50
Bardet-Biedl Syndrome, Type 3	p. 52
Bardet-Biedl Syndrome, Type 4	p. 54
Basal Cell Nevus Syndrome	p. 56
Beckwith-Wiedemann Syndrome	p. 58
Bencze Syndrome	p. 62
Berardinelli Syndrome	p. 64
Binder Syndrome	p. 67
Blepharonasofacial Syndrome	p. 69
Bloom Syndrome	p. 71
BOF Syndrome	p. 73
BOR Syndrome	p. 75
Borjeson-Forssman-Lehmann Syndrome	p. 78
Brachial Plexus Neuropathy	p. 80
C Syndrome	p. 82
Campomelic Dysplasia	p. 84
Cardiofaciocutaneous Syndrome	p. 86
Carpenter Syndrome	p. 88
Cartilage-Hair Hypoplasia	p. 91
Cat Eye Syndrome	p. 93
Catel-Manzke Syndrome	p. 96
Cerebocostomandibular Syndrome	p. 98
Cerebrooculofacioskeletal Syndrome	p. 101
CHARGE Association	p. 103
Christian Syndrome	p. 106
Cleidocranial Dysplasia	p. 109
Clouston Syndrome	p. 112
Cockayne Syndrome	p. 114
Cockayne Syndrome, Type II	p. 116
Cockayne Syndrome, Type III	p. 118
Coffin-Lowry Syndrome	p. 120
Coffin-Siris Syndrome	p. 122
Cohen Syndrome	p. 124
Cowden Syndrome	p. 126
Craniodiaphyseal Dysplasia	p. 128
Craniofrontonasal Syndrome	p. 131
Craniometaphyseal Dysplasia	p. 133
Cri-du-Chat Syndrome	p. 135
Crouzon Syndrome	p. 137
Cryptophthalmos Syndrome	p. 140
De Barsy Syndrome	p. 142
de Lange Syndrome	p. 144
Diastrophic Dysplasia	p. 148
Distal Arthrogryposis	p. 150
Down Syndrome	p. 152
Dubowitz Syndrome	p. 156
Dysautonomia	p. 159
Dyskeratosis Congenita	p. 161
Dysosteosclerosis	p. 163
EEC Syndrome	p. 165
Ellis-van Creveld Syndrome	p. 168
Escobar Syndrome	p. 170
Fabry Syndrome	p. 173
Facio-cardio-renal Syndrome	p. 175
Facioscapulohumeral Muscular Dystrophy	p. 177
Femoral Hypoplasia Unusual Facies Syndrome	p. 179
Fetal Alcohol Syndrome	p. 182
FG Syndrome	p. 186
Filiform Adhesions and Cleft LipPalate	p. 189
Freeman-Sheldon Syndrome	p. 191
Frontometaphyseal Dysplasia	p. 194
GAPO Syndrome	p. 197
Golabi-Rosen Syndrome	p. 199
Goldberg-Shprintzen Syndrome	p. 202
Goltz Syndrome	p. 204
Hajdu-Cheney Syndrome	p. 207
Hallerman-Streiff Syndrome	p. 210
Hecht Syndrome	p. 213
Hemihypertrophy	p. 215
Herrmann Syndrome	p. 217
HMC Syndrome	p. 219
Holoprosencephaly	p. 221
Homocystinuria	p. 225
Hunter Syndrome	p. 227
Hurler Syndrome	p. 230
Hypochondroplasia	p. 233
Hypohidrotic Ectodermal Dysplasia	p. 235
Jackson-Weiss Syndrome	p. 238
Johanson-Blizzard Syndrome	p. 240
Johnson-McMillin Syndrome	p. 242
Kallmann Syndrome	p. 244
Kartagener Syndrome	p. 246
Kearns-Sayre Syndrome	p. 248
Keutel Syndrome	p. 250
Klippel-Trenaunay-Weber Syndrome	p. 252
Kniest Syndrome	p. 254
Laband Syndrome	p. 257
Langer-Giedion Syndrome	p. 260
Larsen Syndrome	p. 262
Laurence-Moon Syndrome	p. 264
Lenz Syndrome	p. 266
Lenz-Majewski Syndrome	p. 269
Lesch-Nyhan Syndrome	p. 271
Lowe Syndrome	p. 273
Maffucci Syndrome	p. 275
Mannosidosis	p. 277
Marden-Walker Syndrome	p. 280
Marfan Syndrome	p. 283
Marinesco-Sjogren Syndrome	p. 285
Maroteaux-Lamy Syndrome	p. 287
Marshall Syndrome	p. 289
Marshall-Smith Syndrome	p. 291
Mohr Syndrome	p. 293
Morquio Syndrome	p. 296
Multiple Lentigines Syndrome	p. 298
Nager Syndrome	p. 300
Neurofibromatosis, Type I	p. 303
Niikawa-Kuroki Syndrome	p. 306
Noonan Syndrome	p. 309
Oculo-Auriculo-Vertebral Dysplasia (or Spectrum)	p. 313
Oculocerebrocutaneous Syndrome	p. 318
Oculo-Dento-Digital Syndrome	p. 320
Oculopharyngeal Muscular Dystrophy	p. 322
Opitz Syndrome	p. 324
Oral-Facial-Digital Syndrome	p. 327
Otopalatodigital Syndrome Type 1	p. 330
Otopalatodigital Syndrome Type 2	p. 333
Pena-Shokeir Syndrome	p. 336
Pfeiffer Syndrome	p. 339
Pontobulbar Palsy With Sensorineural Hearing Loss	p. 342
Popliteal Pterygium Syndrome	p. 344
Prader-Willi Syndrome	p. 346
Proteus Syndrome	p. 349
Pycnodysostosis	p. 352
Rapp-Hodgkin Syndrome	p. 354
Robinow Syndrome	p. 357
Rubinstein-Taybi Syndrome	p. 360
Saethre-Chotzen Syndrome	p. 364
Sanfilippo Syndrome	p. 366
Seitelberger Syndrome	p. 369
Setleis Syndrome	p. 371
Short Syndrome	p. 373
Shprintzen-Goldberg Syndrome	p. 376
Smith-Lemli-Opitz Syndrome	p. 380
Sotos Syndrome	p. 383
Spondyloepiphyseal Dysplasia Congenita	p. 385
Steinert Syndrome	p. 388
Strickler Syndrome	p. 392
Sturge-Weber Syndrome	p. 396
Treacher Collins Syndrome	p. 398
Turner Syndrome	p. 402
Van Buchem Syndrome	p. 405
van der Woude Syndrome	p. 408
Velo-Cardio-Facial Syndrome (VCFS)	p. 411
Weaver Syndrome	p. 417
Wildervanck Syndrome	p. 420
Williams Syndrome	p. 423
Wolf-Hirschhorn Syndrome	p. 426
X-Linked Mental Retardation	p. 428
Index	p. 431
Table of Contents provided by Syndetics. All Rights Reserved.

Syndrome Identification For Speech-Language Pathology

An Illustrated Pocketguide

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