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Working with the primarily clinical aim of aiding in the diagnosis of bone dysplasias, Spranger (Children's Hospital U. of Mainz, Germany), Brill (radiology, Weill Medical College of Cornell U., US), and Poznanski (radiology, Northwestern U. Medical School, US), describe the majority of the skeletal dysplasias listed in the International Nomenclature and Classification of the Osteochondrodysplasias (2002). Although the emphasis is on diagnostic analysis, molecular information is included. The work is heavily illustrated with radiological imagesBook News, Inc., Portland, OR

Book Info
The third author, Andrew Poznanski, is with Northwestern Univ. Medical School, Chicago, IL. Atlas provides information to assist in the diagnosis of specific conditions and the care of affected individuals. Includes most skeletal dysplasias, molecular information, NIMs, and additional figures. Previous edition: c1974. DNLM: Bone Disease, Developmental--genetics--Atlases.

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 incorpate 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 changed with age.^NL This book is designed for physicians involved 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 comination, s fraught with errors, the authors focus on basic patterns of skeletal abnormalities.

I. Lethal Osteochondrodysplasias
1. Thanatophoric Dysplasia
2. Achondrogenesis IA
3. Achondrogenesis IB
4. Achondrogenesis II
5. Hypochondrogenesis
6. Short rib (-polydactyly) Syndrome, Saldino-Noonan and Verma-Naumoff types
7. Short rib (-polydactyly) Syndrome, Majewski type
8. Short rib (-polydactyly) Syndrome, Beemer-Langer type
9. Lethal metatropic dysplasia
10. Fibrochondrogenesis
11. Schneckenbecken dysplasia
12. Blomstrand chondrodysplasia
13. Platyspondylic chondrodysplasia, Torrence type
14. Lethal platyspondylic chondrodysplasia, Sedghatian type
15. Dyssegmental dysplasia, Silverman-Handmaker type
16. Dyssegmental dysplasia, Rolland-Desbuquois type
17. Campomelic dysplasia
18. Gracile bone dysplasia with flared metaphyses and cranial deformity
19. Boomerang dysplasia
20. Atelosteogenesis I
21. Atelosteogenesis II
22. Atelosteogenesis III
II. Chondrodysplasia Punctata Group
23. Greenberg Dysplasia
24. Dappled Diaphysis Dysplasia
25. Chondrodysplasia punctata, rhizomelic type
26. Chondrodysplasia punctata, Conradi-Hunermann type
27. Chondrodysplasia punctata, tibia-metacarpal type
28. Chondrodysplasia punctata, brachytelephalangic type
III. Skeletal Dysplasias with Predominant Metaphyseal Involvement
29. Achondrodysplasia
30. Hypochondrodysplasia
31. Metaphyseal dysplasia, Jansen type
32. Metaphyseal dysplasia, Schmid type
33. Cartilage-Hair-Hypoplasia
34. Shwachman syndrome
35. Omenn Syndrome with metaphyseal chondrodysplasia
36. Metaphyseal Anadysplasia
37. Hypophosphatasia
38. Asphyxiating thoracic dysplasia
39. Ellis-van Creveld syndrome
40. Cranioectodermal dysplasia
IV. Skeletal Dysplasias with Predominant Epiphyseal Involvement
41. Multiple epiphyseal dysplasia
42. Pseudoachondroplasia
V. Skeletal Dysplasias with Major Involvement of the Spine
43. Kniest dysplasia
44. Spondyloepiphyseal dysplasia congenita
45. Autosomal dominant spondylarthopathy
46. Stickler Arthroophthalmopathy
47. Otospondylometepiphyseal dysplasia
48. Spondyloepiphyseal dysplasia tarda, X-linked
49. Mselini-Handigodu familial osteoarthropathy
50. Progressive pseudorheumatoid dysplasia
51. Schwartz-Jampel syndrome
52. Metatropic dysplasia
53. Diastrophic dysplasia
54. Opsismodysplasia
55. Anauxetic dysplasia
56. Spondyloepimetaphyseal dysplasia--abnormal calcification type
57. Dyggve-Melchior-Clausen syndrome
58. Schimke immuno-osseous dysplasia
59. Wolcott-Rallison syndrome
60. Sponastrime dysplasia
61. Spondylometaphyseal dysplasia, Kozlowski type
62. Spondylometaphyseal dysplasia, Sutcliffe type
VI. Skeletal Dysplasias with Multiple Dislocations
63. Larsen syndrome
64. Desbuquois syndrome
65. Spondylo-epi-metaphyseal dysplasia with joint laxity
66. Spondylo-epi-metaphyseal dysplasia with leptodactyly
VII. Dysotosis Multiplex: Complex Carbohydrate Storage Diseases
67. Mucopolysaccharidosis I-H
68. Mucopolysaccharidosis I variants
69. Mucopolysaccharidosis II
70. Mucopolysaccharidosis III
71. Mucopolysaccharidosis IV
72. Mucopolysaccharidosis VI
73. Mucopolysaccharidosis VII
74. Mucoolipidosis II
75. Mucolipidosis III
76. GM1 Gangliosidosis I, infantile
77. GM1 Gangliosidosis I, adult
78. Sialidosis/Galactosialidosis
79. Mannosidosis
80. Fucosidosis
81. Aspartylglucosaminuria
82. Sialic acid storage disease
VIII. Skeletal Dysplasias with Predominant Involvement of Single Sites or Segments
A. Spine
83. Brachyolmia, recessive
B. Rhizomelic
84. Omodysplasia
C. Mesomelic
85. Dyschondrosteosis
86. Mesomelic dysplasia, Langer type
87. Mesomelic dysplasia, Kantaputra type
88. Nievergelt syndrome
89. Grebe Dysplasia
90. Acromesomelic Dysplasia, Maroteaux type
91. Robinow syndrome, autosomal recessive
D. Peripheral
92. Brachydactyly A
93. Brachydactyly B
94. Brachydactyly C
95. Brachydactyly D
96. Brachydactyly E
97. Brachydactyly
98. Albright hereditary osteodystrophy
99. Acrodysostosis
100. Tricho-rhino-phalangeal syndrome I
101. Tricho-rhino-phalangeal syndrome II
102. Mainzer-Saldino syndrome
103. Angel-shaped phalango-epiphyseal dysplasia
104. Geleophysic dysplasia
105. Acromicric dysplasia
E. Other
106. Cleidocranial dysplasia
IX. Dysplasias with Prominent Diaphyseal Involvement
107. Melnick-Needles Osteodysplasty
108. Oto-palato-digital syndrome
109. Frontometaphyseal dysplasia
110. Microcephalic osteodysplastic primordial dwarfism, type 1
111. Microcephalic osteodysplastic primordial dwarfism, type 2
112. Kenny-Caffey syndrome
X. Skeletal Dysplasias with Decreased Bone Density
113. Osteogenesis imperfecta, type I
114. Osteogenesis imperfecta, type IIA
115. Osteogenesis imperfecta, type IIC
116. Osteogenesis imperfecta, type IIB/III
117. Osteogenesis imperfecta, type IV
118. Idiopathic osteoporosis
119. Geroderma osteodysplasticum
120. Stuve-Wiedemann Syndrome
XI. Skeletal Dysplasias with Increased Bone Density
121. Raine dysplasia
122. Infantile osteoporosis
123. Juvenile osteoporosis
124. Osteoporosis with renal tubular acidosis
125. Dysosteosclerosis
126. Pyknodysostosis
127. Osteomesopyknosis
128. Osteopathia striata with cranial sclerosis
129. Melorheostosis
130. Osteopoikilosis
131. Infantile cortical hyperostosis
132. Camurati-Engelmann disease
133. Pachydermoperiostosis
134. Curraino hypertrophic osteoarthropathy
135. Osteoectasia with hyperphosphatasia
136. Craniometaphyseal dysplasia
137. Metaphyseal dysplasia (Pyle and Braun-Tinscher types)
138. Cranio-diaphyseal dysplasia
139. Cranio-meta-diaphyseal dysplasia
140. Lenz-Majewski dysplasia
141. Endosteal hyperostoses
142. Sclerosteo-cerebellar syndrome
143. Oculodento-osseous dysplasia
XII. Skeletal Dysplasias due to Disorganized Development of Bone Constituents
144. Multiple cartilaginous exostoses
145. Dysplasia epiphysealis hemimelica
146. Enchondromatosis, Ollier type
147. Genochondromatosis
148. Metachondromatosis
149. Spondyloenchondrodysplasia
150. Dysspondyloenchondromatosis
151. Cheirospondylochondromatosis
152. Fibrous dysplasia
153. Osteoglophonic dysplasia
154. Fibrodysplasia ossificans progressiva
XIII. Osteolyses
155. Hajdu-Cheney syndrome
156. Juvenile hyaline fibromatosis
157. Mandibuloacral dysplasia
158. Familial expansile osteolysis
159. Multicentric carpo-tarsal osteolysis
160. Winchester-Torg syndrome