Table of Contents for (9780195214741) Bone Dysplasias: An Atlas ...

Bone Dysplasias: An Atlas of Genetic Disorders of Skeletal Development

Spranger, Jurgen W.

ISBN-13: 9780195214741

Table of Contents

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

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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

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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