Bone Dysplasias: An Atlas of Genetic Disorders of Skeletal Development

Hardcover | October 18, 2012

byJurgen W. Spranger, Paula Brill, Andrea Superti-Furga

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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, theimportance 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 pinpointspecific 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.

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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, theimportance of accurate diagnosis cannot be oversta...

Jurgen W. Spranger, M.D., is Professor Emeritus of Pediatrics at Children's Hospital, University of Mainz in Mainz, Germany and Senior Genetics Scholar, Greenwood Genetic Center, Greenwood, SC. Paula Brill, M.D., is Professor of Radiology at Cornell University Medical College, New York, NY. Andrea Superti-Furga, M.D., Professor of Ped...

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Format:HardcoverDimensions:1456 pages, 11 × 8.5 × 0.98 inPublished:October 18, 2012Publisher:Oxford University PressLanguage:English

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ISBN - 10:0195396081

ISBN - 13:9780195396089

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Table of Contents

Section I Skeletal Dysplasias with Predominant Metaphyseal Involvement1. FGFR3 Group1. 1 Thanatophoric Dysplasia1. 2 Achondroplasia1. 3 Hypochondroplasia1. 4 SADDAN2. Metaphyseal Dysplasia Schmid type3. Cartilage-hair-Hypoplasia4. Metaphyseal Dysplasia Spahr type5. Shwachman-Diamond Syndrome6. Omenn Syndrome7. Metaphyseal Anadysplasia8. Metaphyseal Acroscyphodysplasia9. Jansen Dysplasia10. Eiken Dysplasia11. CINCASection II Skeletal Dysplasias with Predominant Epiphyseal Involvement12. Sulfate Transporter Group12.1 Achondrogenesis type 1B12.2 De la Chapelle Dysplasia (Atelosteogenesis 2)12.3 Diastrophic Dysplasia12.4 Multiple Epiphyseal Dysplasia, autosomal recessive13. Multiple Epiphyseal Dysplasia, autosomal dominant14. PseudoachondroplasiaSection III Chondrodysplasia Punctata Group15. Greenberg Dysplasia16. Chondrodysplasia punctata, X-linked dominant17. Congenital hemidysplasia, ichthyosis, limb deficiency (CHILD)18. Chondrodysplasia punctata, autosomal recessive19. Chondrodysplasia punctata, X-linked recessive20. Chondrodysplasia punctate, autosomal dominant type.21. Chondrodysplasia punctata, tibial-metacarpal typeSection IV Skeletal Dysplasias with Prominent Diaphyseal Involvement22. Filamin A Group22.1 Oto-palato-digital Syndrome I22.2 Oto-palato-digital Syndrome II22.3 Osteodysplasty Melnik-Needles22.4 Frontometaphyseal Dysplasia23. Filamin B Group23.1 Atelosteogenesis type 123.2 Atelosteogenesis type 323.3 Larsen syndrome23.4 Spondylo-carpo-tarsal SyndromeSection V Spondylo-Epiphyseal Dysplasias24. Type 2 Collagen Group24.1 Achondrogenesis type 224.2 Hypochondrogenesis24.3 Spondyloepiphyseal Dysplasia, Torrance type24.4 Spondyloepiphyseal Dysplasia congenita24.5 Kniest Dysplasia24.6 Spondyloperipheral Dysplasia24.7 Spondyloepiphyseal Dysplasia with Metatarsal Shortening24.8 Spondyloepiphyseal Dysplasia with Premature Onset Arthrosis24.9 Vitreoretinopathy with phalangeal epiphyseal dysplasia24.10 Stickler Dysplasia25. Type 11 Collagen Group25.1 Fibrochondrogenesis25.2 Otospondylometaepiphyseal Dysplasia26. Perlecan Group26.1 Dyssegmental Dysplasia Silverman-Handmaker26.2 Dyssegmental Dysplasia, Rolland-Desbuqois26.3 Schwartz-Jampel Syndrome27. Spondyloepiphyseal Dysplasia tarda, X-linked28. Spondyloepiphyseal Dysplasia tarda, autosomal recessive29. Spondyloepiphyseal Dysplasia, Kimberley type30. Spondyloepiphyseal Dysplasia, Wolcott-Rallison type31. Immunoosseous Dysplasia32. Progressive Pseudorheumatoid Chondrodysplasia33. Spondylo-Megaepiphyseal-Metaphyseal DysplasiaSection VI Spondylo-Metaphyseal Dysplasias34. Spondylometaphyseal Dysplasia, Sedaghatian type35. Odontochondrodysplasia36. Spondylometaphyseal Dysplasia, Sutcliffe (corner fracture) type37. Spondyloenchondrodysplasia38. Spondylometaphyseal Dysplasia with cone-rod dystrophy39. Axial Spondylometaphyseal DysplasiaSection VII Spondylo-Epi-Metaphyseal Dysplasias40. TRPV4 Group40.1 Metatropic Dysplasia40.2 Spondylo-epi-metaphyseal Dysplasia, Maroteaux type40.3 Spondylometaphyseal Dysplasia, Kozlowski type40.4 Brachyolmia, autosomal dominant41. Brachyolmia, autosomal recessive42. Dyggve-Melchior-Clausen Dysplasia43. Spondylo-epi-metaphyseal Dysplasia, short limb abnormal calcification type44. SPONASTRIME Dysplasia45. Spondylo-epi-metaphyseal Dysplasia, leptodactylic type46. Chondrodysplasia with congenital joint dislocations, CST3 type47. Desbuquois Dysplasia48. gPAPP Dysplasia49. Pseudodiastrophic Dysplasia50. Spondylo-epi-metaphyseal Dysplasia with joint laxitySection VIII Severe Spondylodysplastic Dysplasias51. Achondrogenesis type 1A52. Schneckenbecken Dysplasia53. OpsismodysplasiaSection IX Short-rib (-Polydactyly) Dysplasias54. Asphyxiating Thoracic Dysplasia55. Chondroectodermal Dysplasia56. Thoracopelvic Dysplasia (Barnes)57. SRP, Saldino-Noonan-Verma-Naumoff type58. SRP, Beemer-Langer type59. SRP, Majewski type60. Orofaciodigital syndrome IV Mohr-MajewskiSection X Rhizomelic/Mesomelic Dysplasias61. Omodysplasia62. Robinow Syndrome63. Dyschondrosteosis64. Langer Mesomelic Dysplasia65. Mesomelic Dysplasia, Kantaputra type66. Werner Mesomelic Dysplasia67. Mesomelic Dysplasia, Kozlowski-Reardon type68. Mesomelic Dysplasia, Nievergelt-Savarirayan type69. Mesomelic Dysplasia with acral synostosesSection XI Acromesomelic Dysplasias70. Acromesomelic Dysplasia, Maroteaux type71. Grebe DysplasiaSection XII Acromelic Dysplasias72. Isolated Brachydactylies72.1 Brachydactyly A172.2 Brachydactyly B72.3 Brachydactyly C72.4 Brachydactyly D72.5 Brachydactyly E72.6 Brachydactyly, Christian type73. Trichorhinophalangeal Dysplasia I74. Trichorhinophalangeal Dysplasia II75. Acrocapitofemoral Dysplasia76. Angel-shaped phalangoepiphyseal Dysplasia77. Albright Osteodystrophy78. Acrodysostosis79. Marshall-Smith Syndrome80. Geleophysic Dysplasia81. Acromicric Dysplasia82. Cranioectodermal Dysplasia (Sensenbrenner)83. Saldino-Mainzer Dysplasia84. Familial digital arthropathy with brachydactylySection XIII Bent Bone Dysplasias85. Campomelic Dysplasia86. Cousin Dysplasia87. Cumming DysplasiaSection XIV Slender Bone Dysplasias88. Three-M Syndrome89. Kenny-Caffey Dysplasia90. Microcephalic Osteodysplastic Primordial Dwarfism, type 191. Microcephalic Osteodysplastic Primordial Dwarfism, type 292. IMAGE Syndrome93. OsteocraniosteosisSection XV Dense Bone Dysplasias with Normal Bone Shape94. Blomstrand Dysplasia95. Osteopetroses95.1 Raine Dysplasia95.2 Osteopetrosis, infantile95.3 Osteopetrosis, intermediate95.4 Osteopetrosis, late-onset form95.5 Osteopetrosis with renal tubular acidosis96. Dysosteosclerosis97. Pyknodysostosis98. Osteomesopyknosis99. Osteopetrosis, Ectodermal Dysplasia, Immune Defect OLEDAID100. Osteopoikilosis101. Melorheostosis102. Osteopathia striata with cranial sclerosisSection XVI Dense Bone Dysplasias with Meta-Diaphyseal Modeling Defects103. Caffey Infantile Hyperostosis104. Osteoectasia with hyperphosphatasia105. Endosteal Hyperostosis, van Buchem type106. Diaphyseal dysplasia, Camurati Engelmann107. Diaphyseal Dysplasia with Anemia (Ghosal)108. Lenz-Majewski Hyperostotic Dysplasia109. Pachydermoperiostosis110. Hypertrophic Osteoarthropathy Currarino111. Diaphyseal Medullar Stenosis with Bone Malignancy112. Sclerosteo-cerebellar Syndrome113. Craniodiaphyseal Dysplasia114. Craniometaphyseal Dysplasia115. Pyle disease116. Metaphyseal Dysplasia, Braun-Tinschert type117. Oculodentoosseous Dysplasia118. Trichodentoosseous DysplasiaSection XVII Dysplasias with Decreased Bone Density119. Osteogenesis imperfecta119.1 Osteogenesis imperfecta type 1119.2 Osteogenesis imperfecta type 2A119.3 Osteogenesis imperfecta type 2C119.4 Osteogenesis imperfecta type 2B/III119.5 Osteogenesis imperfecta type 4120. Juvenile Idiopathic Osteoporosis121. Bruck Syndrome122. Singleton-Merten Syndrome123. Geroderma osteodysplasticum124. Weismann-Netter Toxopachyosteosis125. Calvarial doughnut lesions with bone fragility126. Cole-Carpenter Dysplasia127. Spondylo-ocular Dysplasia128. Gnathodiaphyseal dysplasiaSection XVIII Dysplasias with Defective Mineralization129. Hypophosphatasia130. Neonatal Hyperparathyroidism131. Hereditary RicketsSection XIX Lysosomal Storage Diseases with Skeletal Involvement (Dysostosis multiplex)132. Mucopolysaccharidoses132.1 Mucopolysaccharidosis I-H132.2 Mucopolysaccharidosis I-H Variants132.3 Mucopolysaccharidosis II132.4 Mucopolysaccharidosis III132.5 Mucopolysaccharidosis IV132.6 Mucopolysaccharidosis VI132.7 Mucopolysaccharidosis VII133. Muclipidoses133.1 Mucolipidosis II133.2 Mucolipidosis III134. Oligosaccharidoses134.1 GM1 Gangliosidosis, infantile134.2 GM1 Gangoiosidosis, adult134.3 Sialidosis/Gangliosialidosis134.4 Mannosidosis134.5. Fucosidosis134.6 Aspartylglucosaminuria134.7 Sialic Acid Storage Disease134.8 Multiple Sulfatase DeficiencySection XX Osteolyses135. Familial Expansile Osteolysis136. Infantile Systemic Hyalinosis/Juvenile Fibromatosis137. Mandibuloacral Dysplasia138. Progeria Huchinson-Gilford139. Winchester-Torg Syndrome140. Hajdu-Cheney Syndrome141. Multicentric Carpo-Tarsal OsteolysisSection XXI. Disorganized Development of Skeletal Components142. Fibrous Dysplasia143. Cherubism144. Progressive Osseous Heteroplasia145. Multiple Cartilaginous Exostoses146. Osteoglophonic Dysplasia147. Fibrodysplasia Ossificans Progressiva148. Dysplasia Epiphysealis Hemimelica149. Enchondromatosis (Ollier)150. Cheirospondyloenchondromatosis151. Genochondromatosis152. MetachondromatosisSection XXII Cleidocranial Dysplasias153. Cleidocranial Dysplasia154. Yunis-Varon Syndrome155. CDAGS SyndromeSection XXIII Craniosynostosis Syndromes (selected)156. Apert Syndrome157. Pfeiffer Syndrome158. Antley-Bixler Syndrome159. Saethre-Chotzen Syndrome160. Baller-Gerold Syndrome161. Carpenter Syndrome162. Muenke SyndromeSection XXIV Costovertebral Dysostoses (selected)163. Spondylocostal Dysostoses164. Jarcho-Levin Syndrome165. Cerebro-costo-mandibular Syndrome166. Ischio-spinal DysostosisSection XXV Limb A/Hypoplasias (seleced)167. Roberts Syndrome168. Ectrodactyly-Ectodermal Dysplasias169. Femoral Hypoplasia-Unusual Facies Syndrome170. Femur-Fibula-Ulna Syndrome171. Nail-Patella Syndrome172. Ischio-Patellar DysplasiaSection XXVI Acral and other Dysostoses (selected)173. Keutel Syndrome174. Catel-Manzke Syndrome175. Poland Syndrome176. Greig Cephalopolysyndactyly SyndromeSection XXVII Disorders caused by Defective Joint Formation178. Multiple Synostosis Syndrome