图书简介

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 Type I (MIM 112310, 108720); 9.6 ATELOSTEOGENESIS TYPE III (MIM 108721); 9.7 Larsen Syndrome, Autosomal Dominant (MIM 150250); 9.8 Spondylocarpotarsal Synostosis Syndrome (MIM 272460); 9.9 Frank-ter Haar Syndrome (MIM 249420); 10. PUNCTATE CALCIFICATION GROUP; 10.1 Greenberg Dysplasia (MIM 215140); 10.2 CHONDRODYSPLASIA PUNCTATA CONRADI-HUNERMANN TYPE (MIM 302960); 10.3 CHILD (Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects) Syndrome (MIM 308050); 10.4 Chondrodysplasia Punctata, Rhizomelic Type (MIM 215100, 222765, 600121); 10.5 Chondrodysplasia Punctata, Brachytelephalangic Type (MIM 302950; 602497); 10.6 Chondrodysplasia Punctata, Autosomal Dominant Type (MIM 118650); 10.7 Chondrodysplasia Punctata, Tibia-Metacarpal Type (MIM 118651); 10.8 KEUTEL SYNDROME (MIM 245150); 11. Short-rib (+- polydactyly) dysplasias; 11.1 Asphyxiating Thoracic Dysplasia (MIM 208500); 11.2 ELLIS VAN CREVELD SYNDROME (MIM 255500); 11.3 Short Rib (+-Polydactyly) Syndrome, Saldino-Noonan and Verma-Naumoff types (MIM 613091); 11.4 Short Rib (+-Polydactyly) Syndrome, Majewski Type (MIM 263520); 11.5 SHORT RIB (+-POLYDACTYLY) SYNDROME, BEEMER-LANGER TYPE (MIM 269860); 11.6 Cranioectodermal Dysplasia (MIM 218330); 11.7 Mainzer-Saldino Syndrome (MIM 266920); 11.8 Axial Spondylometaphyseal Dysplasia (MIM 602271); 12. Rhizo-MESOMELIC DYSPLASIAS; 12.1 Omodysplasia, Autosomal recessive (MIM 258315, 268250); 12.2 ROBINOW SYNDROME (MIM 180700, 616331, 616894, 268310); 12.3 DYSCHONDROSTEOSIS (MIM 127300); 12.4 MESOMELIC DYSPLASIA, LANGER TYPE (MIM 249700); 12.5 Mesomelic Dysplasia, Kantaputra Type (MIM 156232); 12.6 Mesomelic Dysplasia, Werner type (MIM 188740; 135750); 12.7 Mesomelic Dysplasia, Reardon-Kozlowski type (MIM 249710); 12.8 Mesomelic Dysplasia, Nievergelt-Savarirayan Type (MIM 163400; 605274); 12.9 Mesomelic Dysplasia with Acral Synostoses (MIM 600383); 13. Acromesomelic AND ACROMELIC Dysplasias/DYSOSTOSeS; 13.1 ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE (MIM 602875); 13.2 GREBE DYSPLASIA (MIM 200700, 201250, 228900); 13.3 BRACHYDACTYLY A1 (MIM 112500); 13.4 Brachydactyly B (MIM 113000); 13.5 BRACHYDACTYLY C (MIM 113100); 13.6 BRACHYDACTYLY D (MIM 113200); 13.7 BRACHYDACTYLY E (MIM 113300, 613380); 13.8 BRACHYDACTYLY, CHRISTIAN TYPE (MIM 112450); 13.9 TRICHO-RHINO-PHALANGEAL DYSPLASIA, TYPE I (MIM 190350); 13.10 TRICHO-RHINO-PHALANGEAL SYNDROME, TYPE II (MIM 150230); 13.11 Acrocapitofemoral Dysplasia (MIM 607778); 13.12 Albright Hereditary Osteodystrophy(MIM 103580, 600430, 612462, 612463 ); 13.13 ACRODYSOSTOSIS (MIM 101800, 614613); 13.14 Geleophysic Dysplasia (MIM 231050); 13.15 ACROMICRIC DYSPLASIA (MIM 102370); 13.16 MYHRE SYNDROME (MIM 139210); 13.17 SOFT Syndrome (MIM 614813); 14. Osteogenesis Imperfecta and other Disorders with Decreased Bone Density; 14.1 Osteogenesis imperfecta; 14.2 Osteogenesis Imperfecta, Type I (MIM 116200); 14.3 Osteogenesis Imperfecta, Type IIA (MIM 166210); 14.4 Osteogenesis Imperfecta, Type IIC; 14.5 Osteogenesis Imperfecta, Type III/IIB (MIM 259420); 14.6 Osteogenesis Imperfecta, Type IV (MIM 166220); 14.7 Osteogenesis Imperfecta, Type V (MIM 610967); 14.8 Idiopathic Juvenile Osteoporosis (MIM 259750); 14.9 Bruck Syndrome (MIM 259450; 609220; 610968); 14.10 Cole-Carpenter Syndrome (MIM 112240, 616294); 14.11 STuVE-WIEDEMANN syndrome (MIM 601559); 14.12 osteoporosis-pseudoglioma syndrome (MIM 259770); 14.13 Spondyloocular dysplasia (MIM 605822); 14.14 Geroderma Osteodysplasticum (MIM 231070); 14.15 CALVARIAL DOUGHNUT LESIONS-OSTEOPOROSIS SYNDROME (MIM 126550); 14.16 Gnathodiaphyseal Dysplasia (MIM 166260); 15.; 15.1 Hypophosphatasia (MIM 146300, 241500, 251510); 15.2 Neonatal Severe Primary Hyperparathyroidism (MIM 239200); 16. Dense Bone Dysplasias with Normal Bone Shape; 16.1 Dense Bone Dysplasias with Normal Bone Shape; 16.2 Raine Dysplasia (MIM 259775); 16.3 Infantile Osteopetrosis (MIM 259700, 259710, 259720, 611490); 16.4 Osteopetrosis, Intermediate (MIM 259710, 611497); 16.5 Osteopetrosis, Late Onset Forms (MIM 607634, 166660); 16.6 Osteopetrosis with Renal Tubular Acidosis (MIM 259730); 16.7 DYSOSTEOSCLEROSIS (MIM 224300); 16.8 Pyknodysostosis (MIM 265800); 16.9 OsteomesopYknosis (MIM 166450); 16.10 Osteopetrosis, Lymphedema, Ectodermal Dysplasia, Immune Defect (MIM 300301); 16.11 Osteopoikilosis (MIM 166700); 16.12 Melorheostosis (MIM 155950); 16.13 Osteopathia Striata with Cranial Sclerosis (MIM 300373); 17. Dense Bone Dysplasias with Meta-Diaphyseal Modeling Defects; 17.1 BLOMSTRAND CHONDRODYSPLASIA (MIM 215045); 17.2 Infantile Cortical Hyperostosis (MIM 114000); 17.3 Dysplastic Cortical Hyperostosis type Kozlowski-Tsuruta; 17.4 Osteoectasia with Hyperphosphatasia (MIM 239000); 17.5 Endosteal Hyperostosis, van Buchem type (MIM 239100, 269500); 17.6 Camurati-Engelmann Disease (MIM 131300); 17.7 l Hematodiaphyseal Dysplasia (MIM 231095); 17.8 z-Majewski Hyperostotic Dysplasia (MIM 151050); 17.9 Hypertrophic osteoarthropathy, Autosomal Recessive (MIM 259100); 17.10 Pachydermoperiostosis, Autosomal dominant (MIM 167100); 17.11 Sclerosteo-Cerebellar Syndrome (MIM 213002); 17.12 Craniodiaphyseal Dysplasia (MIM 122860, 218300); 17.13 Craniometaphyseal Dysplasia (MIM 123000; 218400); 17.14 Craniometadiaphyseal Dysplasia wormian bone type (MIM 269300); 17.15 Pyle Disease (MIM 265900); 17.16 Metaphyseal Dysplasia, Braun-Tinschert Type (MIM 605946); 17.17 OCULODENTOOSSEOUS DYSPLASIA (MIM 164200); 17.18 Tricho-dento-osseous Dysplasia (MIM 190320); 17.19 Diaphyseal Medullary Stenosis with Bone Malignancy (MIM 112250); 18.; 18.1 Familial Expansile Osteolysis (MIM 174810); 18.2 hyaline fibromatosis (MIM 228600); 18.3 Mandibuloacral Dysplasia (MIM 248370; 608612); 18.4 PROGERIA (MIM 176670); 18.5 Winchester-Torg syndrome (MIM 259600); 18.6 Hajdu-Cheney OSTEOLYSIS (MIM 102500); 18.7 Multicentric Carpal-Tarsal Osteolysis (MIM 166300); 19. DISORDERS CAUSED BY DISORGANIZATION OF SKELETAL CONSTITUENTS; 19.1 Fibrous dysplasia (MIM 174800); 19.2 Cherubism (MIM 118400); 19.3 Progressive osseous heteroplasia (MIM 166350); 19.4 Multiple Cartilaginous Exostoses (MIM 133700, 133701, 600209); 19.5 Osteoglophonic Dysplasia (MIM 166250); 19.6 Fibrodysplasia Ossificans Progressiva (MIM 135100); 19.7 Dysplasia Epiphysealis Hemimelica (MIM 127800); 19.8 ENCHONDROMATOSIS (MIM 166000); 19.9 METAPHYSEAL CHONDROMATOSIS WITH 2-HYDROXYGLUTARIC ACIDURIA; 19.10 Genochondromatosis (MIM 137360); 19.11 Metachondromatosis (MIM 156250); 20.; 20.1 CAMPOMELIC DYSPLASIA (MIM 211990, 114290); 20.2 COUSIN DYSPLASIA (MIM 260660); 20.3 Spondylo-Megaepiphyseal-Metaphyseal Dysplasia (SMMD) (MIM 613330); 20.4 Cleidocranial Dysplasia (MIM 119600); 20.5 Yunis-Varon Syndrome (MIM 216340); 20.6 CDAGS (MIM 603116); 20.7 Nail-Patella Syndrome (MIM 161200); 20.8 Ischio-Pubic-Patellar Dysplasia (MIM 147891); 20.9 Ischiospinal Dysostosis (MIM 608020); 20.10 Cerebro-Costo-Mandibular Syndrome (MIM 117650); 20.11 SAMS SYNDROME (MIM 602471); 21.; 21.1 3M Syndrome (MIM 273750, 612921, 614205); 21.2 KENNY-CAFFEY SYNDROME (MIM 127000 (type 2)); 21.3 Osteocraniostenosis (MIM 602361); 21.4 Microcephalic Osteodysplastic Primordial Dwarfism, Types 1 and 3 (MIM 210710, 210730); 21.5 Microcephalic Osteodysplastic Primordial Dwarfism, Type 2 (MIM 210720); 21.6 IMAGE (Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, and Genital Anomalies) Syndrome (MIM 614732); 22. OVERGROWTH / ACCELERATED SKELETAL MATURATION SYNDROMES (SELECTED); 22.1 Marshall-Smith syndrome (MIM 602535); 22.2 Marshall-Smith syndrome (MIM 602535); 22.3 WEAVER SYNDROME (MIM 277590); 22.4 CNP-overexpression Overgrowth Syndrome (MIM 615923); 23. CRANIOSYNOSTOSIS SYNDROMES; 23.1 APERT SYNDROME (MIM 101200); 23.2 Pfeiffer Syndrome (MIM 101600, 136350); 23.3 Antley-Bixler Syndrome (MIM 201750); 23.4 Saethre-Chotzen Syndrome (MIM 101400); 23.5 Baller-Gerold Syndrome (MIM 218600, 266280); 23.6 CARPENTER SYNDROME (MIM 201000, 614970); 23.7 MUENKE SYNDROME (MIM 602849); 23.8 BENT BONE DYSPLASIA-FGFR2 TYPE (MIM 614592); 24. Spondylocostal dysostoses (SCD); 25.; 25.1 AL-AWADI RAAS-ROTHSCHILD SYNDROME (MIM 276820, 228930); 25.2 Roberts/SC Phocomelia Syndrome (MIM 268300, 269000); 25.3 Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/Palate Syndrome (MIM 129900; 604292); 25.4 SPLIT-HAND/FOOT MALFORMATION WITH LONG BONE DEFICIENCY (SHFLD) (MIM 119100, 610685, 612576); 25.5 FemoraL-Facial Syndrome (FFS) (MIM 134780); 25.6 Femur-Fibula-Ulna Syndrome (MIM 228200); 25.7 POLAND SYNDROME (MIM 173800); 25.8 NAGER SYNDROME (MIM 154400, 201170 ); 26. DISORDERS WITH DEFECTIVE JOINT FORMATION; 26.1 Multiple Synostoses Syndrome (MIM 186500; 186570; 610017; 612961); 26.2 Liebenberg Syndrome (MIM 186550); Index

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