9780769300207

Following the success of the PocketGuide to Syndrome Identification for Speech-Language Pathologists, this PocketGuide presents detailed information on the syndromes that result in hearing impairments and other communicative deficits. The syndromes are listed in alphabetical order for easy access and each entry covers the major systems affected, etiology, and associated symptoms. This PocketGuide is an ideal supplemental text for pediatric audiology courses as well as being a "must-have" reference in clinical practice.

Robert J. Shprintzen, Ph.D., is a Director of the Communication Disorder Unit and Professor of Pediatrics, Otolaryngology, and Communication Science, State University of New York Upstate Medical University in Syracuse, New York. He also directs the Center for Genetic Communication Disorders and the Center for Diagnosis, Treatment, and Study of Velo-Cardio-Facial Syndrome.

Preface

vii

Acknowledgments

ix

How to Use This PocketGuide

x

Abruzzo-Erickson Syndrome

1

(3)

Achondroplasia

4

(3)

Acrocallosal Syndrome

7

(3)

Albers-Schonberg Syndrome

10

(2)

Alstrom Syndrome

12

(2)

Antley-Bixler Syndrome

14

(3)

Apert Syndrome

17

(4)

Beckwith-Wiedemann Syndrome

21

(4)

Bloom Syndrome

25

(3)

BOR Syndrome

28

(4)

C Syndrome

32

(2)

Cat Eye Syndrome

34

(3)

CHARGE Association

37

(3)

Cleidocranial Dysplasia

40

(3)

Cockayne Syndrome

43

(3)

Cockayne Syndrome, Type II

46

(2)

Cockayne Syndrome, Type III

48

(2)

Coffin-Lowry Syndrome

50

(2)

Cowden Syndrome

52

(2)

Craniodiaphyseal Dysplasia

54

(3)

Craniofrontonasal Syndrome

57

(3)

Craniometaphyseal Dysplasia

60

(2)

Crouzon Syndrome

62

(3)

Cryptophthalmos Syndrome

65

(3)

Cytomegalovirus Embryopathy

68

(2)

de Lange Syndrome

70

(4)

Down Syndrome

74

(5)

Dyskeratosis Congenita

79

(3)

Dysosteosclerosis

82

(2)

Edwards Sybdrome

84

(2)

EEC Syndrome

86

(3)

Ehlers-Danlos Syndrome, Type VI

89

(2)

Escobar Syndrome

91

(3)

Fabry Syndrome

94

(2)

Facio-cardio-renal Syndrome

96

(2)

Facioscapulohumeral Muscular Dystrophy

98

(2)

Fetal Alcohol Syndrome

100

(4)

FG Syndrome

104

(3)

Frontometaphyseal Dysplasia

107

(3)

Gernet Syndrome

110

(2)

Gorlin-Chaudhry-Moss Syndrome

112

(2)

Hajdu-Cheney Syndrome

114

(3)

Harboyan Syndrome

117

(2)

Hermann Syndrome

119

(2)

HMC Syndrome

121

(3)

Holoprosencephaly

124

(4)

Hunter Syndrome

128

(4)

Hurler Syndrome

132

(3)

Jackson-Weiss Syndrome

135

(2)

Johanson-Blizzard Syndrome

137

(3)

Johnson-McMillin Syndrome

140

(2)

Kallmann Syndrome

142

(2)

Kartagener Syndrome

144

(2)

Kearns-Sayre Syndrome

146

(2)

Keutel Syndrome

148

(2)

Klein-Waardenburg Syndrome

150

(2)

Kniest Syndrome

152

(3)

LADD Syndrome

155

(3)

Langer-Giedion Syndrome

158

(2)

Larsen Syndrome

160

(2)

Lenz-Majewski Syndrome

162

(2)

Mannosidosis

164

(3)

Marfan Syndrome

167

(2)

Maroteaux-Lamy Syndrome

169

(2)

Marshall Syndrome

171

(2)

Michels Syndrome

173

(2)

Miller Syndrome

175

(3)

Mohr Syndrome

178

(3)

Morquio Syndrome

181

(2)

Multiple Lentigines Syndrome

183

(2)

Nager Syndrome

185

(3)

Neurofibromatosis, Type 2

188

(2)

Niikawa-Kuroki Syndrome

190

(3)

Noonan Syndrome

193

(4)

Norrie Syndrome

197

(2)

Oculo-Auriculo-Vertebral Dysplasia (or Spectrum)

199

(5)

Oculo-Dento-Digital Syndrome

204

(3)

OHAHA Syndrome

207

(2)

Ohdo Syndrome

209

(2)

Opitz Syndrome

211

(3)

Oral-Facial-Digital Syndrome

214

(3)

Otopalatodigital Syndrome Type 1

217

(3)

Otopalatodigital Syndrome Type 2

220

(3)

Pendred Syndrome

223

(2)

Pfeiffer Syndrome

225

(3)

Pontobulbar Palsy With Sensorineural Hearing Loss

228

(2)

Refsum Syndrome

230

(3)

Rubella Embryopathy

233

(3)

Rubinstein-Taybi Syndrome

236

(4)

Saethre-Chotzen Syndrome

240

(2)

Sanfilippo Syndrome

242

(3)

Seitelberger Syndrome

245

(2)

Short Syndrome

247

(3)

Spondyloepiphyseal Dysplasia Congenita

250

(3)

Steinert Syndrome

253

(4)

Strickler Syndrome

257

(5)

Townes-Brocks Syndrome

262

(2)

Treacher Collins Syndrome

264

(4)

Turner Syndrome

268

(4)

Usher Syndrome, Type IA

272

(3)

Usher Syndrome, Type IB

275

(2)

Usher Syndrome, Type IC

277

(2)

Usher Syndrome, Type ID

279

(2)

Usher Syndrome, Type IE

281

(2)

Usher Syndrome, Type IF

283

(2)

Usher Syndrome, Type IIA

285

(2)

Usher Syndrome, Type IIB

287

(2)

Usher Syndrome, Type III

289

(2)

Van Buchem Syndrome

291

(3)

Velo-Cardio-Facial Syndrome (VCFS)

294

(5)

Waardenburg Syndrome

299

(3)

Waardenburg Syndrome, Type IIA

302

(2)

Waardenburg Syndrome with Ocular Albinism

304

(2)

Wildervanck Syndrome

306

(3)

Williams Syndrome

309

(4)

Index

313

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Syndrome Identification for Audiology An Illustrated PocketGuide

0769300200

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Table of Contents

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