Bone Dysplasias: An Atlas of Genetic Disorders of Skeletal Development (3rd edition)

ISBN : 9780195396089

Jurgen W. Spranger; Paula W. Brill; Andrea Superti-Furga; Sheila Unger; Gen Nishimura
828 Pages
222 x 280 mm
Pub date
Nov 2012
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Since the publication of the second edition on Bone Dysplasias ten years ago, there has been an explosion of knowledge about skeletal dysplasias. The molecular basis of a great number of disorders has been delineated, and many new conditions have been recognized. Now more than ever, the importance of accurate diagnosis cannot be overstated. Given the growth of activity and research in the field, practitioners must acknowledge that many conditions with superficial similarities have different inheritance patterns and prognoses. Various research and routine laboratories can pinpoint specific diagnoses, but before the appropriate laboratory can be consulted and eventual costs considered, clinical and radiographic features must be identified with a high degree of precision. Fully updated and expanded, this new edition of Bone Dysplasias contains: - More than 100 chapters on newer entities to assist the practitioner in narrowing a group of diagnostic possibilities to a specific disorder - Over 2,500 diagnostic radiographs with concise clinical and biological information on a total of 275 rare constitutional skeletal diseases - Concise data on the etiopathogenesis, natural course, complications, and differential diagnosis of rare conditions. A true landmark in the study and investigation of bone dysplasias, this comprehensive volume will be a must-have resource radiologists, medical geneticists, orthopedic surgeons, pediatricians, and genetic counselors caring for patients with bone dysplasias.


Section I Skeletal Dysplasias with Predominant Metaphyseal Involvement
1. FGFR3 Group
1. 1 Thanatophoric Dysplasia
1. 2 Achondroplasia
1. 3 Hypochondroplasia
2. Metaphyseal Dysplasia Schmid type
3. Cartilage-hair-Hypoplasia
4. Metaphyseal Dysplasia Spahr type
5. Shwachman-Diamond Syndrome
6. Omenn Syndrome
7. Metaphyseal Anadysplasia
8. Metaphyseal Acroscyphodysplasia
9. Jansen Dysplasia
10. Eiken Dysplasia
Section II Skeletal Dysplasias with Predominant Epiphyseal Involvement
12. Sulfate Transporter Group
12.1 Achondrogenesis type 1B
12.2 De la Chapelle Dysplasia (Atelosteogenesis 2)
12.3 Diastrophic Dysplasia
12.4 Multiple Epiphyseal Dysplasia, autosomal recessive
13. Multiple Epiphyseal Dysplasia, autosomal dominant
14. Pseudoachondroplasia
Section III Chondrodysplasia Punctata Group
15. Greenberg Dysplasia
16. Chondrodysplasia punctata, X-linked dominant
17. Congenital hemidysplasia, ichthyosis, limb deficiency (CHILD)
18. Chondrodysplasia punctata, autosomal recessive
19. Chondrodysplasia punctata, X-linked recessive
20. Chondrodysplasia punctate, autosomal dominant type.
21. Chondrodysplasia punctata, tibial-metacarpal type
Section IV Skeletal Dysplasias with Prominent Diaphyseal Involvement
22. Filamin A Group
22.1 Oto-palato-digital Syndrome I
22.2 Oto-palato-digital Syndrome II
22.3 Osteodysplasty Melnik-Needles
22.4 Frontometaphyseal Dysplasia
23. Filamin B Group
23.1 Atelosteogenesis type 1
23.2 Atelosteogenesis type 3
23.3 Larsen syndrome
23.4 Spondylo-carpo-tarsal Syndrome
Section V Spondylo-Epiphyseal Dysplasias
24. Type 2 Collagen Group
24.1 Achondrogenesis type 2
24.2 Hypochondrogenesis
24.3 Spondyloepiphyseal Dysplasia, Torrance type
24.4 Spondyloepiphyseal Dysplasia congenita
24.5 Kniest Dysplasia
24.6 Spondyloperipheral Dysplasia
24.7 Spondyloepiphyseal Dysplasia with Metatarsal Shortening
24.8 Spondyloepiphyseal Dysplasia with Premature Onset Arthrosis
24.9 Vitreoretinopathy with phalangeal epiphyseal dysplasia
24.10 Stickler Dysplasia
25. Type 11 Collagen Group
25.1 Fibrochondrogenesis
25.2 Otospondylometaepiphyseal Dysplasia
26. Perlecan Group
26.1 Dyssegmental Dysplasia Silverman-Handmaker
26.2 Dyssegmental Dysplasia, Rolland-Desbuqois
26.3 Schwartz-Jampel Syndrome
27. Spondyloepiphyseal Dysplasia tarda, X-linked
28. Spondyloepiphyseal Dysplasia tarda, autosomal recessive
29. Spondyloepiphyseal Dysplasia, Kimberley type
30. Spondyloepiphyseal Dysplasia, Wolcott-Rallison type
31. Immunoosseous Dysplasia
32. Progressive Pseudorheumatoid Chondrodysplasia
33. Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Section VI Spondylo-Metaphyseal Dysplasias
34. Spondylometaphyseal Dysplasia, Sedaghatian type
35. Odontochondrodysplasia
36. Spondylometaphyseal Dysplasia, Sutcliffe (corner fracture) type
37. Spondyloenchondrodysplasia
38. Spondylometaphyseal Dysplasia with cone-rod dystrophy
39. Axial Spondylometaphyseal Dysplasia
Section VII Spondylo-Epi-Metaphyseal Dysplasias
40. TRPV4 Group
40.1 Metatropic Dysplasia
40.2 Spondylo-epi-metaphyseal Dysplasia, Maroteaux type
40.3 Spondylometaphyseal Dysplasia, Kozlowski type
40.4 Brachyolmia, autosomal dominant
41. Brachyolmia, autosomal recessive
42. Dyggve-Melchior-Clausen Dysplasia
43. Spondylo-epi-metaphyseal Dysplasia, short limb abnormal calcification type
44. SPONASTRIME Dysplasia
45. Spondylo-epi-metaphyseal Dysplasia, leptodactylic type
46. Chondrodysplasia with congenital joint dislocations, CST3 type
47. Desbuquois Dysplasia
48. gPAPP Dysplasia
49. Pseudodiastrophic Dysplasia
50. Spondylo-epi-metaphyseal Dysplasia with joint laxity
Section VIII Severe Spondylodysplastic Dysplasias
51. Achondrogenesis type 1A
52. Schneckenbecken Dysplasia
53. Opsismodysplasia
Section IX Short-rib (-Polydactyly) Dysplasias
54. Asphyxiating Thoracic Dysplasia
55. Chondroectodermal Dysplasia
56. Thoracopelvic Dysplasia (Barnes)
57. SRP, Saldino-Noonan-Verma-Naumoff type
58. SRP, Beemer-Langer type
59. SRP, Majewski type
60. Orofaciodigital syndrome IV Mohr-Majewski
Section X Rhizomelic/Mesomelic Dysplasias
61. Omodysplasia
62. Robinow Syndrome
63. Dyschondrosteosis
64. Langer Mesomelic Dysplasia
65. Mesomelic Dysplasia, Kantaputra type
66. Werner Mesomelic Dysplasia
67. Mesomelic Dysplasia, Kozlowski-Reardon type
68. Mesomelic Dysplasia, Nievergelt-Savarirayan type
69. Mesomelic Dysplasia with acral synostoses
Section XI Acromesomelic Dysplasias
70. Acromesomelic Dysplasia, Maroteaux type
71. Grebe Dysplasia
Section XII Acromelic Dysplasias
72. Isolated Brachydactylies
72.1 Brachydactyly A1
72.2 Brachydactyly B
72.3 Brachydactyly C
72.4 Brachydactyly D
72.5 Brachydactyly E
72.6 Brachydactyly, Christian type
73. Trichorhinophalangeal Dysplasia I
74. Trichorhinophalangeal Dysplasia II
75. Acrocapitofemoral Dysplasia
76. Angel-shaped phalangoepiphyseal Dysplasia
77. Albright Osteodystrophy
78. Acrodysostosis
79. Marshall-Smith Syndrome
80. Geleophysic Dysplasia
81. Acromicric Dysplasia
82. Cranioectodermal Dysplasia (Sensenbrenner)
83. Saldino-Mainzer Dysplasia
84. Familial digital arthropathy with brachydactyly
Section XIII Bent Bone Dysplasias
85. Campomelic Dysplasia
86. Cousin Dysplasia
87. Cumming Dysplasia
Section XIV Slender Bone Dysplasias
88. Three-M Syndrome
89. Kenny-Caffey Dysplasia
90. Microcephalic Osteodysplastic Primordial Dwarfism, type 1
91. Microcephalic Osteodysplastic Primordial Dwarfism, type 2
92. IMAGE Syndrome
93. Osteocraniosteosis
Section XV Dense Bone Dysplasias with Normal Bone Shape
94. Blomstrand Dysplasia
95. Osteopetroses
95.1 Raine Dysplasia
95.2 Osteopetrosis, infantile
95.3 Osteopetrosis, intermediate
95.4 Osteopetrosis, late-onset form
95.5 Osteopetrosis with renal tubular acidosis
96. Dysosteosclerosis
97. Pyknodysostosis
98. Osteomesopyknosis
99. Osteopetrosis, Ectodermal Dysplasia, Immune Defect OLEDAID
100. Osteopoikilosis
101. Melorheostosis
102. Osteopathia striata with cranial sclerosis
Section XVI Dense Bone Dysplasias with Meta-Diaphyseal Modeling Defects
103. Caffey Infantile Hyperostosis
104. Osteoectasia with hyperphosphatasia
105. Endosteal Hyperostosis, van Buchem type
106. Diaphyseal dysplasia, Camurati Engelmann
107. Diaphyseal Dysplasia with Anemia (Ghosal)
108. Lenz-Majewski Hyperostotic Dysplasia
109. Pachydermoperiostosis
110. Hypertrophic Osteoarthropathy Currarino
111. Diaphyseal Medullar Stenosis with Bone Malignancy
112. Sclerosteo-cerebellar Syndrome
113. Craniodiaphyseal Dysplasia
114. Craniometaphyseal Dysplasia
115. Pyle disease
116. Metaphyseal Dysplasia, Braun-Tinschert type
117. Oculodentoosseous Dysplasia
118. Trichodentoosseous Dysplasia
Section XVII Dysplasias with Decreased Bone Density
119. Osteogenesis imperfecta
119.1 Osteogenesis imperfecta type 1
119.2 Osteogenesis imperfecta type 2A
119.3 Osteogenesis imperfecta type 2C
119.4 Osteogenesis imperfecta type 2B/III
119.5 Osteogenesis imperfecta type 4
120. Juvenile Idiopathic Osteoporosis
121. Bruck Syndrome
122. Singleton-Merten Syndrome
123. Geroderma osteodysplasticum
124. Weismann-Netter Toxopachyosteosis
125. Calvarial doughnut lesions with bone fragility
126. Cole-Carpenter Dysplasia
127. Spondylo-ocular Dysplasia
128. Gnathodiaphyseal dysplasia
Section XVIII Dysplasias with Defective Mineralization
129. Hypophosphatasia
130. Neonatal Hyperparathyroidism
131. Hereditary Rickets
Section XIX Lysosomal Storage Diseases with Skeletal Involvement
(Dysostosis multiplex)
132. Mucopolysaccharidoses
132.1 Mucopolysaccharidosis I-H
132.2 Mucopolysaccharidosis I-H Variants
132.3 Mucopolysaccharidosis II
132.4 Mucopolysaccharidosis III
132.5 Mucopolysaccharidosis IV
132.6 Mucopolysaccharidosis VI
132.7 Mucopolysaccharidosis VII
133. Muclipidoses
133.1 Mucolipidosis II
133.2 Mucolipidosis III
134. Oligosaccharidoses
135.1 GM1 Gangliosidosis, infantile
134.2 GM1 Gangoiosidosis, adult
134.3 Sialidosis/Gangliosialidosis
134.4 Mannosidosis
134.5. Fucosidosis
134.6 Aspartylglucosaminuria
134.7 Sialic Acid Storage Disease
134.8 Multiple Sulfatase Deficiency
Section XX Osteolyses
135. Familial Expansile Osteolysis
136. Infantile Systemic Hyalinosis/Juvenile Fibromatosis
137. Mandibuloacral Dysplasia
138. Progeria Huchinson-Gilford
139. Winchester-Torg Syndrome
140. Hajdu-Cheney Syndrome
141. Multicentric Carpo-Tarsal Osteolysis
Section XXI. Disorganized Development of Skeletal Components
142 Fibrous Dysplasia
143. Cherubism
144. Progressive Osseous Heteroplasia
145. Multiple Cartilaginous Exostoses
146. Osteoglophonic Dysplasia
147. Fibrodysplasia Ossificans Progressiva
148. Dysplasia Epiphysealis Hemimelica
149. Enchondromatosis (Ollier)
150. Cheirospondyloenchondromatosis
151. Genochondromatosis
152. Metachondromatosis
Section XXII Cleidocranial Dysplasias
153. Cleidocranial Dysplasia
154. Yunis-Varon Syndrome
155. CDAGS Syndrome
Section XXIII Craniosynostosis Syndromes (selected)
156. Apert Syndrome
157. Pfeiffer Syndrome
158. Antley-Bixler Syndrome
159. Saethre-Chotzen Syndrome
160. Baller-Gerold Syndrome
161. Carpenter Syndrome
162. Muenke Syndrome
Section XXIV Costovertebral Dysostoses (selected)
163. Spondylocostal Dysostoses
164. Jarcho-Levin Syndrome
165. Cerebro-costo-mandibular Syndrome
166. Ischio-spinal Dysostosis
Section XXV Limb A/Hypoplasias (seleced)
167. Roberts Syndrome
168. Ectrodactyly-Ectodermal Dysplasias
169. Femoral Hypoplasia-Unusual Facies Syndrome
170. Femur-Fibula-Ulna Syndrome
171. Nail-Patella Syndrome
172. Ischio-Patellar Dysplasia
Section XXVI Acral and other Dysostoses (selected)
173. Keutel Syndrome
174. Catel-Manzke Syndrome
175. Poland Syndrome
176. Greig Cephalopolysyndactyly Syndrome
Section XXVII Disorders caused by Defective Joint Formation
178. Multiple Synostosis Syndrome

About the author: 

Jurgen W. Spranger, M.D., is Professor Emeritus of Pediatrics, Children's Hospital, University of Mainz, Mainz, Germany and Senior Genetics Scholar, Greenwood Genetic Center, Greenwood, SC. Paula Brill, M.D., is Professor of Radiology, Cornell University Medical College, New York, NY. Andrea Superti-Furga, M.D., Professor of Pediatrics, University of Freiburg, Freiburg, Germany. Sheila Unger, M.D., is Geneticist, Department of Human Genetics, University of Freiburg, Freiburg, Germany. Gen Nishimura, M.D., is Radiologist-in-Chief, Department of Pediatric Imaging, Tokyo Metropolitan Children's Medical Center.

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