Bone dysplasias : an atlas of genetic disorders of skeletal development / Jürgen W. Spranger, Paula W. Brill, Andrew K. Poznanski.

Format:

Book

Author/Creator:

Spranger, Jürgen W.

Contributor:

Brill, Paula W.

Poznanski, Andrew K., 1931-

Language:

English

Subjects (All):

Bones--Diseases--Genetic aspects--Atlases.

Bones.

Bone Diseases, Developmental--genetics.

Bones--Diseases--Genetic aspects.

Diagnosis, Differential.

Medical Subjects:

Bone Diseases, Developmental--genetics.

Diagnosis, Differential.

Genre:

Atlases.

Physical Description:

xvii, 613 pages : illustrations ; 29 cm

Edition:

Second edition.

Place of Publication:

Oxford ; New York : Oxford University Press, 2002.

Summary:

Many advances have been made in understanding skeletal dysplasias since the first edition of this classic text appeared in 1974. The diagnostic process has been refined, many new disorders have been recognized, and the molecular aspects in many cases have been elucidated. The second edition has been completely renovated, with the help of two new coauthors, to incorporate these advances. The book's format is similar to the original but the number of conditions covered has almost doubled and molecular information has been added wherever available. The number of figures has been increased to the limit of economic wisdom. As in the first edition, the illustrations have been selected and sequenced to illustrate both the degree of variability of a given disorder and its changes with age. This book is designed for physicians involved in the evaluation and treatment of patients with skeletal dysplasias, including radiologists, medical geneticists, pediatricians, and orthopedic surgeons. Its main goal is to assist in the diagnosis of specific conditions and the care of affected individuals. Though mutations of specific genes can produce dysplasias with very different phenotypes and prognoses, the primarily clinical aim of this book dictated a phenotypic classification in general, with compromises on etiologic grounds where necessary. Since the attempt to diagnose a skeletal dysplasia from single signs, alone or in combination, is fraught with errors, the authors focus on basic patterns of skeletal abnormalities.

Contents:

I. Lethal Osteochondrodysplasias

1. Thanatophoric Dysplasia 3

2. Achondrogenesis IA 7

3. Achondrogenesis IB 9

4. Achondrogenesis II 11

5. Hypochondrogenesis 13

6. Short rib (-polydactyly) Syndrome, Saldino-Noonan and Verma-Naumoff types 15

7. Short rib (-polydactyly) Syndrome, Majewski type 18

8. Short rib (-polydactyly) Syndrome, Beemer-Langer type 20

9. Lethal metatropic dysplasia 22

10. Fibrochondrogenesis 24

11. Schneckenbecken dysplasia 26

12. Blomstrand chondrodysplasia 28

13. Platyspondylic chondrodysplasia, Torrance type 30

14. Lethal platyspondylic chondrodysplasia, Sedghatian type 34

15. Dyssegmental dysplasia, Silverman-Handmaker type 36

16. Dyssegmental dysplasia, Rolland-Desbuquois type 38

17. Campomelic dysplasia 41

18. Gracile bone dysplasia with flared metaphyses and cranial deformity 47

19. Boomerang dysplasia 49

20. Atelosteogenesis I 51

21. Atelosteogenesis II 53

22. Atelosteogenesis III 55

II. Chondrodysplasia Punctata Group

23. Greenberg Dysplasia 59

24. Dappled Diaphysis Dysplasia 61

25. Chondrodysplasia punctata, rhizomelic type 63

26. Chondrodysplasia punctata, Conradi-Hunermann type 66

27. Chondrodysplasia punctata, tibia-metacarpal type 71

28. Chondrodysplasia punctata, brachytelephalangic type 76

III. Skeletal Dysplasias with Predominant Metaphyseal Involvement

29. Achondroplasia 83

30. Hypochondroplasia 90

31. Metaphyseal dysplasia, Jansen type 95

32. Metaphyseal dysplasia, Schmid type 100

33. Cartilage-Hair-Hypoplasia 103

34. Shwachman syndrome 109

35. Omenn Syndrome with metaphyseal chondrodysplasia 112

36. Metaphyseal Anadysplasia 115

37. Hypophosphatasia 118

38. Asphyxiating thoracic dysplasia 125

39. Ellis-van Creveld syndrome 130

40. Cranioectodermal dysplasia 136

IV. Skeletal Dysplasias with Predominant Epiphyseal Involvement

41. Multiple epiphyseal dysplasia 141

42. Pseudoachondroplasia 147

V. Skeletal Dysplasias with Major Involvement of the Spine

43. Kniest dysplasia 155

44. Spondyloepiphyseal dysplasia congenita 160

45. Autosomal dominant spondyloarthropathy 168

46. Stickler Arthroophthalmopathy 170

47. Otospondylometepiphyseal dysplasia 175

48. Spondyloepiphyseal dysplasia tarda, X-linked 179

49. Mselini-Handigodu familial osteoarthropathy 183

50. Progressive pseudorheumatoid dysplasia 186

51. Schwartz-Jampel syndrome 190

52. Metatropic dysplasia 195

53. Diastrophic dysplasia 200

54. Opsismodysplasia 208

55. Anauxetic dysplasia 211

56. Spondyloepimetaphyseal dysplasia

abnormal calcification type 215

57. Dyggve-Melchior-Clausen syndrome 219

58. Schimke immuno-osseous dysplasia 223

59. Wolcott-Rallison syndrome 226

60. Sponastrime dysplasia 229

61. Spondylometaphyseal dysplasia, Kozlowski type 232

62. Spondylometaphyseal dysplasia, Sutcliffe type 236

VI. Skeletal Dysplasias with Multiple Dislocations

63. Larsen Syndrome 241

64. Desbuquois syndrome 248

65. Spondylo-epi-metaphyseal dysplasia with joint laxity 252

66. Spondylo-epi-metaphyseal dysplasia with leptodactyly 256

VII. Dysostosis Multiplex Complex Carbohydrate Storage Diseases

67. Mucopolysaccharidosis I-H 263

68. Mucopolysaccharidosis I variants 268

69. Mucopolysaccharidosis II 272

70. Mucopolysaccharidosis III 277

71. Mucopolysaccharidosis IV 281

72. Mucopolysacharidosis VI 287

73. Mucopolysaccharidosis VII 292

74. Mucoolipidosis II 295

75. Mucolipidosis III 300

76. GM1 Gangliosidosis I, infantile 304

77. GM1 Gangliosidosis, I, adult 307

78. Sialidosis/Galactosialidosis 309

79. Mannosidosis 313

80. Fucosidosis 318

81. Aspartylglucosaminuria 321

82. Sialic acid storage disease 324

VIII. Skeletal Dysplasias with Predominant Involvement of Single Sites or Segments

A. Spine

83. Brachyolmia, recessive 329

B. Rhizomelic

84. Omodysplasia 332

C. Mesomelic

85. Dyschondrosteosis 336

86. Mesomelic dysplasia, Langer type 339

87. Mesomelic dysplasia, Kantaputra type 343

88. Nievergelt syndrome 345

89. Grebe Dysplasia 347

90. Acromesomelic Dysplasia, Maroteaux type 350

91. Robinow syndrome, autosomal recessive 355

D. Peripheral

92. Brachydactyly A 359

93. Brachydactyly B 362

94. Brachydactyly C 364

95. Brachydactyly D 367

96. Brachydactyly E 369

97. Brachydactyly, Christian type 371

98. Albright hereditary osteodystrophy 373

99. Acrodysostosis 378

100. Tricho-rhino-phalangeal syndrome I 380

101. Tricho-rhino-phalangeal syndrome II 383

102. Mainzer-Saldino syndrome 385

103. Angel-shaped phalango-epiphyseal dysplasia 387

104. Geleophysic dysplasia 389

105. Acromicric dysplasia 391

E. Other

106. Cleidocranial dysplasia 395

IX. Dysplasias with Prominent Diaphyseal Involvement

107. Melnick-Needles Osteodysplasty 401

108. Oto-palato-digital syndrome 408

109. Frontometaphyseal dysplasia 416

110. Microcephalic osteodysplastic primordial dwarfism, type 1 418

111. Microcephalic osteodysplastic primordial dwarfism, type 2 421

112. Kenny-Caffey-Syndrome 425

X. Skeletal Dysplasias with Decreased Bone Density

113. Osteogenesis imperfecta, type I 431

114. Osteogenesis imperfecta, type IIA 436

115. Osteogenesis imperfecta, type IIC 438

116. Osteogenesis imperfecta, type IIB/III 440

117. Osteogenesis imperfecta, type IV 446

118. Idiopathic osteoporosis 450

119. Geroderma osteodysplasticum 453

120. Stuve-Wiedemann Syndrome 455

XI. Skeletal Dysplasias with Increased Bone Density

121. Raine dysplasia 461

122. Infantile osteopetrosis 463

123. Juvenile osteopetrosis 467

124. Osteopetrosis with renal tubular acidosis 471

125. Dysosteosclerosis 476

126. Pyknodysostosis 480

127. Osteomesopyknosis 484

128. Osteopathia striata with cranial sclerosis 486

129. Melorheostosis 490

130. Osteopoikilosis 493

131. Infantile cortical hyperostosis 495

132. Camurati-Engelmann disease 499

133. Pachydermoperiostosis 504

134. Currarino hypertrophic osteoarthropathy 507

135. Osteoectasia with hyperphosphatasia 509

136. Craniometaphyseal dysplasia 514

137. Metaphyseal dysplasia (Pyle and Braun-Tinscher types) 519

138. Cranio-diaphyseal dysplasia 523

139. Cranio-meta-diaphyseal dysplasia 525

140. Lenz-Majewski dysplasia 528

141. Endosteal hyperostosis 532

142. Sclerosteo-cerebellar syndrome 538

143. Oculodento-osseous dysplasia 541

XII. Skeletal Dysplasias due to Disorganized Development of Bone Constituents

144. Multiple cartilaginous exostoses 547

145. Dysplasia epiphysealis hemimelica 551

146. Enchondromatosis, Ollier type 554

147. Genochondromatosis 558

148. Metachondromatosis 560

149. Spondyloenchondrodysplasia 562

150. Dysspondyloenchondromatosis 566

151. Cheirospondylochondromatosis 568

152. Fibrous dysplasia 570

153. Osteoglophonic dysplasia 576

154. Fibrodysplasia ossificans progressiva 580

XIII Osteolyses

155. Hajdu-Cheney syndrome 585

156. Juvenile hyaline fibromatosis 588

157. Mandibuloacral dysplasia 591

158. Familial expansile osteolysis 594

159. Multicentric carpo-tarsal osteolysis 596

160. Winchester-Torg syndrome 602.

Notes:

Includes bibliographical references and index.

ISBN:

0195214749

OCLC:

50080318