Descripciones mejoradas de Syndetics:

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.

Tabla de contenidos provista por Syndetics

• 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)

Notas de autor provistas por Syndetics

Robert I. Shprintzen, Ph.D., is Director of Communication Disorders Unit and Professor of Otolaryngology and Communication Science, State University of New York Health Sciences Center at Syracuse. He also directs the Center for Genetic Communication Disorders and the Center for Diagnosis, Treatment, and Study of Velo-Cardio-Facial Syndrome.