Bone Dysplasias

No books come to mind for comparison. This is a unique and high-quality publication that should be considered essential for teaching and practicing medical genetics.

Autorentext
Jürgen W. Spranger, M.D., is Professor Emeritus of Pediatrics, Children's Hospital, University of Mainz, Mainz, Germany and Senior Genetics Scholar, Greenwood Genetic Center, Greenwood, SC. Paula W. Brill, M.D., is Professor Emerita of Radiology, Weill Cornell Medical College New York, NY, and former Chief of Pediatric Radiology, New York Presbyterian Hospital. Christine Hall, M.D., is Professor of Pediatric Radiology, University College London and formerly Consultant Pediatric Radiologist, Great Ormond Street Hospital for Children, London, UK. She is currently an Honorary Consultant, St George's, University of London. Gen Nishimura, M.D., is Visiting Professor at the Center for Intractable Disease, Saitama Medical University Hospital, and former Radiologist-in-Chief, Department of Pediatric Imaging, Tokyo Metropolitan Children's Medical Center. Andrea Superti-Furga, M.D., is Professor of Pediatrics and Genetics at the University of Lausanne and Head of the Division of Genetic Medicine, Lausanne University Hospital, Lausanne, Switzerland. Sheila Unger, M.D., is Privat-docent at the University of Lausanne, Senior Geneticist at the Division of Genetic Medicine, Lausanne University Hospital, Lausanne, Switzerland, and formerly Coordinator at the European Skeletal Dysplasia Network.

Klappentext
The definitive guide to genetic bone disorders, now revised and expanded with glossy photographs and radiographs

"Brilliantly written and produced and deserves to be on the shelves of all pediatric radiologists. It should also be available to geneticists, counselors, and pediatricians." --Radiology

This updated and expanded fourth edition of Bone Dysplasias presents age-related radiographs, photographs and clinical guidelines for more than 250 rare constitutional skeletal diseases. Focusing on diagnostically essential imaging and clinical features, each chapter is supplemented with prognostic and therapeutic information, a guide to differential diagnoses, and a short list of the most relevant publications.

Inhalt
Foreword
John M. Opitz
Preface
1. Achondroplasia AND Related FGFR3 Conditions
1.1 Thanatophoric Dysplasia, Types 1 and 2 (MIM 187600, 187601)
1.2 ACHONDROPLASIA (MIM 100800)
1.3 Hypochondroplasia (MIM 146000)
1.4 SADDAN (Severe Achondroplasia with Developmental Delay and Acanthosis Nigricans) (MIM 616482)
2. PSEUDOACHONDROPLASIA AND DOMINANT EPIPHYSEAL DYSPLASIA
2.1 Pseudoachondroplasia (MIM 177170)
2.2 MULTIPLE EPIPHYSEAL DYSPLASIAS, AUTOSOMAL DOMINANT (MIM 132400, 614135, 600204, 600969, 607078)
3.
3.1 METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE (MIM 156500)
3.2 Cartilage-Hair Hypoplasia (MIM 250250)
3.3 Metaphyseal Dysplasia, Spahr Type (MIM 250400)
3.4 Metaphyseal Anadysplasia (MIM 602111, 613073)
3.5 SHWACHMAN SYNDROME (MIM 260400)
3.6 Metaphyseal Chondrodysplasia, Jansen Type (MIM 156400)
3.7 EIKEN DYSPLASIA (MIM 600002)
3.8 CINCA (Chronic Infantile Neurologic Cutaneous and Articular Syndrome) (MIM 607115)
4.
4.1 Achondrogenesis II, Hypochondrogenesis (MIM 200610)
4.2 Platyspondylic Dysplasia, Torrance Type (MIM 151210)
4.3 Spondyloepiphyseal Dysplasia Congenita (MIM 183900)
4.4 Spondylo-epi-metaphyseal Dysplasia, Strudwick type (MIM 183900, 184250, 184253)
4.5 KNIEST DYSPLASIA (MIM 156550)
4.6 spondyloepiphyseal Dysplasia, stanescu type (MIM 616538)
4.7 Spondyloperipheral Dysplasia (MIM 271700)
4.8 Spondyloepiphyseal Dysplasia with short metatarsals (MIM 609162)
4.9 Stickler Dysplasia (MIM 108300, 604841)
4.10 Fibrochondrogenesis (MIM 228520)
4.11 Oto-Spondylo-Megaepiphyseal Dysplasia (MIM 184840, 277610, 215150)
5. Mucopolysaccharidoses and Oligosaccharidoses
5.1 Dysostosis multiplex
5.2 Mucopolysaccharidosis IV (MIM 253000, 253010)
5.3 MUCOLIPIDOSIS II (MIM 252500)
5.4 MUCOLIPIDOSIS III (MIM 252600, 252605)
6. Metatropic Dysplasia and Other TRPV4-related Skeletal Dysplasias
6.1 Metatropic Dysplasia (MIM 156530, 168400)
6.2 Spondyloepiphyseal Dysplasia, Maroteaux Type (MIM 184095)
6.3 Spondylometaphyseal Dysplasia, Kozlowski Type (MIM 184252)
6.4 Brachyolmia, autosomal dominant (MIM 113500)
6.5 Familial Digital Arthropathy with Brachydactyly(MIM 606835)
7.
7.1 Achondrogenesis type 1A (MIM 200600)
7.2 ODONTOCHONDRODYSPLASIA (MIM 184260)
7.3 Schneckenbecken Dysplasia (MIM 269250)
7.4 OPSISMODYSPLASIA (MIM 258480)
7.5 Spondylometaphyseal dysplasia - Sedaghatian type. (MIM 250220)
7.6 Spondyloenchondrodysplasia (MIM 607944)
7.7 SEMD, PAPSS2 TYPE; AND BRACHYOLMIA, AUTOSOMAL RECESSIVE TYPE (MIM 271530, 271630)
7.8 Dyggve-Melchior-Clausen Dysplasia (MIM 223800)
7.9 Spondylometaepiphyseal Dysplasia, Short Limb-Abnormal Calcification Type (MIM 271665)
7.10 SPONDYLOMETAPHYSEAL DYSPLASIA WITH CONE-ROD DYSTROPHY (MIM 608940)
7.11 Dyssegmental Dysplasia (MIM 224400, MIM 244110)
7.12 Schwartz-Jampel Syndrome (MIM 255800)
7.13 Spondyloepiphyseal Dysplasia Tarda, X-Linked (MIM 313400)
7.14 Aggrecan-Associated Skeletal Dysplasias (MIM 608361, 612813)
7.15 Wolcott-Rallison Syndrome (MIM 226980)
7.16 Schimke Immunoosseous Dysplasia (MIM 242900)
7.17 Progressive Pseudorheumatoid Chondrodysplasia (MIM 208230)
7.18 SPONDYLOMETAPHYSEAL DYSPLASIA, CORNER FRACTURE TYPE (MIM 184255)
7.19 Sponastrime Dysplasia (MIM 271510)
7.20 CODAS SYNDROME (MIM 600373)
7.21 NANS (N-AcetylNeuraminic acid Synthase) DEFICIENCY (OMIM 610442)
7.22 SPONDYLO-EPI-METAPHYSEAL DYSPLASIA WITH IMMUNE DEFICIENCY AND DEVELOPMENTAL DISABILITY, EXTL3-DEFICIENT TYPE
8.
8.1 Achondrogenesis, Type IB (MIM 600972)
8.2 ATELOSTEOGENESIS TYPE 2 (MIM 256050)
8.3 DIASTROPHIC DYSPLASIA (MIM 222600)
8.4 Multiple Epiphyseal Dysplasia, recessive type (rMED)(MIM 226900)
8.5 DESBUQUOIS DYSPLASIA (MIM 251450)
8.6 Chondrodysplasia with Joint Dislocations, IMPAD1/gPAPP type
8.7 Catel-Manzke Syndrome (MIM 616145)
8.8 Chondrodysplasia with congenital joint dislocations, CHST3-type (MIM 143095)
8.9 TEMTAMY PREAXIAL BRACHYDACTYLY SYNDROME (TPBS) (MIM 605282)
8.10 B4GALT7 deficiency (MIM 130070)
8.11 B3GAT3 deficiency (MIM 245600)
8.12 XYLT1 deficiency (MIM 251450)
8.13 Spondyloepimetaphyseal Dysplasia with Joint Laxity BEIGHTON type (MIM 271640)
8.14 SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, LEPTODACTYLIC TYPE (MIM 603546)
8.15 Pseudodiastrophic Dysplasia (MIM 264180)
8.16 STEEL SYNDROME (MIM 615155)
9. Filamin-associated Dysplasias/Dysostoses and related disorders
9.1 Otopalatodigital Syndrome Type 1 (MIM 311300)
9.2 Otopalatodigital Syndrome Type II (MIM 304120)
9.3 Melnick-Needles Osteodysplasty(MIM309350)
9.4 Frontometaphyseal Dysplasia (MIM 305620; 617137)
9.5 Boomerang Dysplasia/Atelosteogenesis Typ…

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