Bone Dysplasias An Atlas of Genetic Disorders of Skeletal Development

by Spranger, Jurgen W.; Brill, Paula W.; Poznanski, Andrew K.

• ISBN13: 9780195214741
• ISBN10: 0195214749
• Edition: 2nd
• Format: Hardcover
• Copyright: 2002-11-21
• Publisher: Oxford University Press

Summary

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 editionhas been completely renovated, with the help of two new co-authors, to incorporate 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 beenincreased 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 changs with age. This book is designed for physicians 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 affectedindividuals. 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 askeletal dysplasia from single signs, alone or in cominations, is fraught with errors, the authors focus on basic patterns of skeletal abnormalities.

Table of Contents

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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