Lethal Osteochondrodysplasias | |
Thanatophoric Dysplasia | p. 3 |
Achondrogenesis IA | p. 7 |
Achondrogenesis IB | p. 9 |
Achondrogenesis II | p. 11 |
Hypochondrogenesis | p. 13 |
Short rib (-polydactyly) Syndrome, Saldino-Noonan and Verma-Naumoff types | p. 15 |
Short rib (-polydactyly) Syndrome, Majewski type | p. 18 |
Short rib (-polydactyly) Syndrome, Beemer-Langer type | p. 20 |
Lethal metatropic dysplasia | p. 22 |
Fibrochondrogenesis | p. 24 |
Schneckenbecken dysplasia | p. 26 |
Blomstrand chondrodysplasia | p. 28 |
Platyspondylic chondrodysplasia, Torrance type | p. 30 |
Lethal platyspondylic chondrodysplasia, Sedghatian type | p. 34 |
Dyssegmental dysplasia, Silverman-Handmaker type | p. 36 |
Dyssegmental dysplasia, Rolland-Desbuquois type | p. 38 |
Campomelic dysplasia | p. 41 |
Gracile bone dysplasia with flared metaphyses and cranial deformity | p. 47 |
Boomerang dysplasia | p. 49 |
Atelosteogenesis I | p. 51 |
Atelosteogenesis II | p. 53 |
Atelosteogenesis III | p. 55 |
Chondrodysplasia Punctata Group | |
Greenberg Dysplasia | p. 59 |
Dappled Diaphysis Dysplasia | p. 61 |
Chondrodysplasia punctata, rhizomelic type | p. 63 |
Chondrodysplasia punctata, Conradi-Hunermann type | p. 66 |
Chondrodysplasia punctata, tibia-metacarpal type | p. 71 |
Chondrodysplasia punctata, brachytelephalangic type | p. 76 |
Skeletal Dysplasias with Predominant Metaphyseal Involvement | |
Achondroplasia | p. 83 |
Hypochondroplasia | p. 90 |
Metaphyseal dysplasia, Jansen type | p. 95 |
Metaphyseal dysplasia, Schmid type | p. 100 |
Cartilage-Hair-Hypoplasia | p. 103 |
Shwachman syndrome | p. 109 |
Omenn Syndrome with metaphyseal chondrodysplasia | p. 112 |
Metaphyseal Anadysplasia | p. 115 |
Hypophosphatasia | p. 118 |
Asphyxiating thoracic dysplasia | p. 125 |
Ellis-van Creveld syndrome | p. 130 |
Cranioectodermal dysplasia | p. 136 |
Skeletal Dysplasias with Predominant Epiphyseal Involvement | |
Multiple epiphyseal dysplasia | p. 141 |
Pseudoachondroplasia | p. 147 |
Skeletal Dysplasias with Major Involvement of the Spine | |
Kniest dysplasia | p. 155 |
Spondyloepiphyseal dysplasia congenita | p. 160 |
Autosomal dominant spondyloarthropathy | p. 168 |
Stickler Arthroophthalmopathy | p. 170 |
Otospondylometepiphyseal dysplasia | p. 175 |
Spondyloepiphyseal dysplasia tarda, X-linked | p. 179 |
Mselini-Handigodu familial osteoarthropathy | p. 183 |
Progressive pseudorheumatoid dysplasia | p. 186 |
Schwartz-Jampel syndrome | p. 190 |
Metatropic dysplasia | p. 195 |
Diastrophic dysplasia | p. 200 |
Opsismodysplasia | p. 208 |
Anauxetic dysplasia | p. 211 |
Spondyloepimetaphyseal dysplasia--abnormal calcification type | p. 215 |
Dyggve-Melchior-Clausen syndrome | p. 219 |
Schimke immuno-osseous dysplasia | p. 223 |
Wolcott-Rallison syndrome | p. 226 |
Sponastrime dysplasia | p. 229 |
Spondylometaphyseal dysplasia, Kozlowski type | p. 232 |
Spondylometaphyseal dysplasia, Sutcliffe type | p. 236 |
Skeletal Dysplasias with Multiple Dislocations | |
Larsen Syndrome | p. 241 |
Desbuquois syndrome | p. 248 |
Spondylo-epi-metaphyseal dysplasia with joint laxity | p. 252 |
Spondylo-epi-metaphyseal dysplasia with leptodactyly | p. 256 |
Dysostosis Multiplex Complex Carbohydrate Storage Diseases | |
Mucopolysaccharidosis I-H | p. 263 |
Mucopolysaccharidosis I variants | p. 268 |
Mucopolysaccharidosis II | p. 272 |
Mucopolysaccharidosis III | p. 277 |
Mucopolysaccharidosis IV | p. 281 |
Mucopolysacharidosis VI | p. 287 |
Mucopolysaccharidosis VII | p. 292 |
Mucoolipidosis II | p. 295 |
Mucolipidosis III | p. 300 |
GM1 Gangliosidosis I, infantile | p. 304 |
GM1 Gangliosidosis, I, adult | p. 307 |
Sialidosis/Galactosialidosis | p. 309 |
Mannosidosis | p. 313 |
Fucosidosis | p. 318 |
Aspartylglucosaminuria | p. 321 |
Sialic acid storage disease | p. 324 |
Skeletal Dysplasias with Predominant Involvement of Single Sites or Segments | |
Spine | |
Brachyolmia, recessive | p. 329 |
Rhizomelic | |
Omodysplasia | p. 332 |
Mesomelic | |
Dyschondrosteosis | p. 336 |
Mesomelic dysplasia, Langer type | p. 339 |
Mesomelic dysplasia, Kantaputra type | p. 343 |
Nievergelt syndrome | p. 345 |
Grebe Dysplasia | p. 347 |
Acromesomelic Dysplasia, Maroteaux type | p. 350 |
Robinow syndrome, autosomal recessive | p. 355 |
Peripheral | |
Brachydactyly A | p. 359 |
Brachydactyly B | p. 362 |
Brachydactyly C | p. 364 |
Brachydactyly D | p. 367 |
Brachydactyly E | p. 369 |
Brachydactyly, Christian type | p. 371 |
Albright hereditary osteodystrophy | p. 373 |
Acrodysostosis | p. 378 |
Tricho-rhino-phalangeal syndrome I | p. 380 |
Tricho-rhino-phalangeal syndrome II | p. 383 |
Mainzer-Saldino syndrome | p. 385 |
Angel-shaped phalango-epiphyseal dysplasia | p. 387 |
Geleophysic dysplasia | p. 389 |
Acromicric dysplasia | p. 391 |
Other | |
Cleidocranial dysplasia | p. 395 |
Dysplasias with Prominent Diaphyseal Involvement | |
Melnick-Needles Osteodysplasty | p. 401 |
Oto-palato-digital syndrome | p. 408 |
Frontometaphyseal dysplasia | p. 416 |
Microcephalic osteodysplastic primordial dwarfism, type 1 | p. 418 |
Microcephalic osteodysplastic primordial dwarfism, type 2 | p. 421 |
Kenny-Caffey-Syndrome | p. 425 |
Skeletal Dysplasias with Decreased Bone Density | |
Osteogenesis imperfecta, type I | p. 431 |
Osteogenesis imperfecta, type IIA | p. 436 |
Osteogenesis imperfecta, type IIC | p. 438 |
Osteogenesis imperfecta, type IIB/III | p. 440 |
Osteogenesis imperfecta, type IV | p. 446 |
Idiopathic osteoporosis | p. 450 |
Geroderma osteodysplasticum | p. 453 |
Stuve-Wiedemann Syndrome | p. 455 |
Skeletal Dysplasias with Increased Bone Density | |
Raine dysplasia | p. 461 |
Infantile osteopetrosis | p. 463 |
Juvenile osteopetrosis | p. 467 |
Osteopetrosis with renal tubular acidosis | p. 471 |
Dysosteosclerosis | p. 476 |
Pyknodysostosis | p. 480 |
Osteomesopyknosis | p. 484 |
Osteopathia striata with cranial sclerosis | p. 486 |
Melorheostosis | p. 490 |
Osteopoikilosis | p. 493 |
Infantile cortical hyperostosis | p. 495 |
Camurati-Engelmann disease | p. 499 |
Pachydermoperiostosis | p. 504 |
Currarino hypertrophic osteoarthropathy | p. 507 |
Osteoectasia with hyperphosphatasia | p. 509 |
Craniometaphyseal dysplasia | p. 514 |
Metaphyseal dysplasia (Pyle and Braun-Tinscher types) | p. 519 |
Cranio-diaphyseal dysplasia | p. 523 |
Cranio-meta-diaphyseal dysplasia | p. 525 |
Lenz-Majewski dysplasia | p. 528 |
Endosteal hyperostosis | p. 532 |
Sclerosteo-cerebellar syndrome | p. 538 |
Oculodento-osseous dysplasia | p. 541 |
Skeletal Dysplasias due to Disorganized Development of Bone Constituents | |
Multiple cartilaginous exostoses | p. 547 |
Dysplasia epiphysealis hemimelica | p. 551 |
Enchondromatosis, Ollier type | p. 554 |
Genochondromatosis | p. 558 |
Metachondromatosis | p. 560 |
Spondyloenchondrodysplasia | p. 562 |
Dysspondyloenchondromatosis | p. 566 |
Cheirospondylochondromatosis | p. 568 |
Fibrous dysplasia | p. 570 |
Osteoglophonic dysplasia | p. 576 |
Fibrodysplasia ossificans progressiva | p. 580 |
Osteolyses | |
Hajdu-Cheney syndrome | p. 585 |
Juvenile hyaline fibromatosis | p. 588 |
Mandibuloacral dysplasia | p. 591 |
Familial expansile osteolysis | p. 594 |
Multicentric carpo-tarsal osteolysis | p. 596 |
Winchester-Torg syndrome | p. 602 |
Index | p. 607 |
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