Bone dysplasias: an atlas of genetic disorders of skeletal development
Saved in:
| Main Authors: | , , |
|---|---|
| Format: | Book |
| Language: | English |
| Published: |
München ; Jena
Urban & Fischer
2002
New York Oxford Univ. Press |
| Edition: | 2. ed. |
| Subjects: | |
| Online Access: | Inhaltsverzeichnis |
| Physical Description: | XVII, 613 S. zahlr. Ill., graph. Darst. |
| ISBN: | 3437214306 0195214749 |
Staff View
MARC
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| 250 | |a 2. ed. | ||
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Record in the Search Index
| _version_ | 1827284201471213568 |
|---|---|
| adam_text |
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,
Majewskitype 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. Cracile bone dysplasia with flared metaphyses
and cranial deformity 47
19. Boomerang dysplasia 49
20. Atelosteogenesis 1 51
21. Atelosteogenesis II 53
22. Atelosteogenesis III 55
II. Chondrodysplasia Punctata Group
23. Creenberg Dysplasia 59
24. Dappled Diaphysis Dysplasia 61
25. Chondrodysplasia punctata, rhizomelic type . 63
26. Chondrodysplasia punctata, Conradi
Hiinermann type 66
27. Chondrodysplasia punctata, tibia metacarpal
type 71
28. Chondrodysplasia punctata, brachytele
phalangic 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 chondro
dysplasia 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
List of Contents XV
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. CM1 Gangliosidosis I, infantile 304
77. CM1 Cangliosidosis I, adult 307
78. Sialidosis/Galactosialidosis 309
79. Mannosidosis 313
80. Fucosidosis 318
81. Aspartylglucosaminuria 321
82. Sialic acid storage disease 324
/III. Skeletal Dysplasias with Predominant
nvolvement 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
:vi _— _
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. Stiive 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, Oilier type 554
147. Cenochondromatosis 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
Index 607
List of Contents xvn |
| any_adam_object | 1 |
| author | Spranger, Jürgen 1931-2025 Brill, Paula W. Poznanski, Andrew K. 1931- |
| author_GND | (DE-588)172382122 (DE-588)12416322X |
| author_facet | Spranger, Jürgen 1931-2025 Brill, Paula W. Poznanski, Andrew K. 1931- |
| author_role | aut aut aut |
| author_sort | Spranger, Jürgen 1931-2025 |
| author_variant | j s js p w b pw pwb a k p ak akp |
| building | Verbundindex |
| bvnumber | BV014670919 |
| classification_rvk | WG 7000 XG 7852 |
| ctrlnum | (OCoLC)314298234 (DE-599)BVBBV014670919 |
| discipline | Biologie Medizin |
| edition | 2. ed. |
| format | Book |
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| indexdate | 2025-03-22T09:00:11Z |
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| isbn | 3437214306 0195214749 |
| language | English |
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| physical | XVII, 613 S. zahlr. Ill., graph. Darst. |
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| publisher | Urban & Fischer Oxford Univ. Press |
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| spelling | Spranger, Jürgen 1931-2025 Verfasser (DE-588)172382122 aut Bone dysplasias an atlas of genetic disorders of skeletal development Jürgen W. Spranger ; Paula W. Brill ; Andrew K. Poznanski 2. ed. München ; Jena Urban & Fischer 2002 New York Oxford Univ. Press XVII, 613 S. zahlr. Ill., graph. Darst. txt rdacontent n rdamedia nc rdacarrier Dysplasie (DE-588)4127500-7 gnd rswk-swf Knochenkrankheit (DE-588)4120576-5 gnd rswk-swf Erbkrankheit (DE-588)4015106-2 gnd rswk-swf Knochendysplasie (DE-588)4164281-8 gnd rswk-swf Knochen (DE-588)4128031-3 gnd rswk-swf 1\p (DE-588)4143303-8 Atlas gnd-content Knochenkrankheit (DE-588)4120576-5 s Erbkrankheit (DE-588)4015106-2 s DE-604 Knochendysplasie (DE-588)4164281-8 s Knochen (DE-588)4128031-3 s Dysplasie (DE-588)4127500-7 s 2\p DE-604 Brill, Paula W. Verfasser aut Poznanski, Andrew K. 1931- Verfasser (DE-588)12416322X aut HBZ Datenaustausch application/pdf http://bvbr.bib-bvb.de:8991/F?func=service&doc_library=BVB01&local_base=BVB01&doc_number=009953403&sequence=000002&line_number=0001&func_code=DB_RECORDS&service_type=MEDIA Inhaltsverzeichnis 1\p cgwrk 20201028 DE-101 https://d-nb.info/provenance/plan#cgwrk 2\p cgwrk 20201028 DE-101 https://d-nb.info/provenance/plan#cgwrk |
| spellingShingle | Spranger, Jürgen 1931-2025 Brill, Paula W. Poznanski, Andrew K. 1931- Bone dysplasias an atlas of genetic disorders of skeletal development Dysplasie (DE-588)4127500-7 gnd Knochenkrankheit (DE-588)4120576-5 gnd Erbkrankheit (DE-588)4015106-2 gnd Knochendysplasie (DE-588)4164281-8 gnd Knochen (DE-588)4128031-3 gnd |
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| title | Bone dysplasias an atlas of genetic disorders of skeletal development |
| title_auth | Bone dysplasias an atlas of genetic disorders of skeletal development |
| title_exact_search | Bone dysplasias an atlas of genetic disorders of skeletal development |
| title_full | Bone dysplasias an atlas of genetic disorders of skeletal development Jürgen W. Spranger ; Paula W. Brill ; Andrew K. Poznanski |
| title_fullStr | Bone dysplasias an atlas of genetic disorders of skeletal development Jürgen W. Spranger ; Paula W. Brill ; Andrew K. Poznanski |
| title_full_unstemmed | Bone dysplasias an atlas of genetic disorders of skeletal development Jürgen W. Spranger ; Paula W. Brill ; Andrew K. Poznanski |
| title_short | Bone dysplasias |
| title_sort | bone dysplasias an atlas of genetic disorders of skeletal development |
| title_sub | an atlas of genetic disorders of skeletal development |
| topic | Dysplasie (DE-588)4127500-7 gnd Knochenkrankheit (DE-588)4120576-5 gnd Erbkrankheit (DE-588)4015106-2 gnd Knochendysplasie (DE-588)4164281-8 gnd Knochen (DE-588)4128031-3 gnd |
| topic_facet | Dysplasie Knochenkrankheit Erbkrankheit Knochendysplasie Knochen Atlas |
| url | http://bvbr.bib-bvb.de:8991/F?func=service&doc_library=BVB01&local_base=BVB01&doc_number=009953403&sequence=000002&line_number=0001&func_code=DB_RECORDS&service_type=MEDIA |
| work_keys_str_mv | AT sprangerjurgen bonedysplasiasanatlasofgeneticdisordersofskeletaldevelopment AT brillpaulaw bonedysplasiasanatlasofgeneticdisordersofskeletaldevelopment AT poznanskiandrewk bonedysplasiasanatlasofgeneticdisordersofskeletaldevelopment |