Abnormal Skeletal Phenotypes

From Simple Signs to Complex Diagnoses

Bearbeitet von Alessandro Castriota-Scanderbeg, Bruno Dallapiccola

1. Auflage 2005. Buch. xiv, 962 S. Hardcover ISBN 978 3 540 67997 4 Format (B x L): 19,3 x 26 cm Gewicht: 2237 g

Weitere Fachgebiete > Medizin > Human-Medizin, Gesundheitswesen > Medizinische Diagnostik, DRG-Konzept , Gutachten

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Chapter 2 Part I Thorax ...... 111 A. Castriota-Scanderbeg

Chapter 1 Abnormal Shape or Size of the Chest ...... 112 Skull ...... 3 Small Thorax ...... 112 A. Castriota-Scanderbeg Pectus Excavatum ...... 118 Pectus Carinatum ...... 121 Abnormalities of the Shape and/or Size Rib Abnormalities ...... 124 of the Skull ...... 5 Short Ribs ...... 124 Microcephaly ...... 5 Eleven Pairs of Ribs ...... 125 Macrocephaly ...... 11 Supernumerary Ribs ...... 127 Craniosynostosis ...... 19 Slender, Thin, or Twisted Ribs ...... 129 Abnormalities of Cranial Development Wide or Thickened Ribs ...... 132 and Ossification ...... 32 Rib Notching ...... 136 Calvarial Ossification Defects ...... 32 Defects in Segmentation ...... 137 Delayed Closure and/or Incomplete Flared or Cupped Ribs ...... 140 Ossification of Sutures and Fontanels . . . . 41 Rib Gap ...... 143 Wormian Bones ...... 46 Clavicular Abnormalities ...... 144 Skull Thickening ...... 53 Aplasia and Hypoplasia ...... 144 Abnormalities of the Skull Base ...... 64 Slender Clavicles ...... 148 Abnormalities of the Sella Turcica ...... 65 Wide or Thickened Clavicles ...... 150 Abnormalities of the Foramen Magnum . . . 69 Clavicles with Lateral Hooks ...... 154 Basilar Impression ...... 72 Scapular Abnormalities ...... 156 Abnormalities of the Facial Bones Sternal Abnormalities ...... 162 and Sinonasal Cavities ...... 75 Abnormalities of Orbital Size ...... 75 Orbital Hypotelorism ...... 78 Chapter 3 Orbital Hypertelorism ...... 80 Choanal Atresia ...... 83 Spine ...... 167 Facial Clefts ...... 85 A. Castriota-Scanderbeg Small Sinuses ...... 89 Abnormalities of the Mandible ...... 91 Abnormal Shape or Size of Vertebrae ...... 167 Micrognathia ...... 91 Tall Ver tebrae ...... 168 Prognathism ...... 98 Beaked Vertebrae ...... 170 Intracranial Calcification ...... 100 Scalloping of the Vertebral Body ...... 172 Platyspondyly ...... 174 Hemivertebrae ...... 184 Block Vertebrae ...... 190 Coronal Cleft Vertebrae ...... 195 Absent or Minimal Vertebral Ossification . . 199 Odontoid Hypoplasia/Aplasia ...... 202 Sacral Agenesis ...... 207 XII Content

Defects of Spinal Alignment ...... 210 Abnormalities of the Long Bones Scoliosis and Kyphosis ...... 210 in the Lower Extremities ...... 314 Abnormalities of the Spinal Canal ...... 218 Genu Varum ...... 314 Narrow Spinal Canal ...... 218 Genu Valgum ...... 316 Wide Spinal Canal ...... 223 Proximal Femoral Focal Dysplasia ...... 318 Atlanto-axial Instability ...... 226 Tibial Bowing ...... 320 Disc Calcification ...... 230 Tibial Hemimelia ...... 323 Fibular Hemimelia ...... 324 Patellar Hypoplasia, Aplasia, Dysplasia, Chapter 4 and Dislocation ...... 326 Pelvis ...... 233 Epiphyseal Abnormalities ...... 330 A. Castriota-Scanderbeg Stippled Epiphyses...... 330 Hypoplastic, Dysplastic, Abnormal Shape or Size of Ilia, Ischia, Dysgenetic Epiphyses ...... 333 and Pubic Bones ...... 233 Large Epiphyses ...... 337 Small, Hypoplastic Pelvis ...... 234 Aseptic Necrosis ...... 339 Flared Iliac Wings ...... 240 Metaphyseal Abnormalities ...... 343 Small Sciatic Notches ...... 243 Broad Metaphyses ...... 343 Iliac Crest Serration ...... 244 Metaphyseal Cupping ...... 346 Wide Interpubic Distance ...... 246 Metaphyseal Spurs ...... 350 Acetabular Abnormalities ...... 248 Metaphyseal Bands ...... 352 Small Acetabular Angle ...... 249 Irregular Metaphyses ...... 356 Protrusio Acetabuli ...... 250 Abnormalities of the Femoral Head and Neck ...... 253 Slipped Capital Femoral Epiphysis ...... 254 Chapter 6 Coxa Vara ...... 257 Hands ...... 361 Coxa Valga ...... 260 A. Castriota-Scanderbeg, Early Ossification of the Femoral Head . . . . 263 B. Dallapiccola Hypoplasia/Aplasia, Irregularities, Fragmentation Shortening or Absence of Components of the Femoral Head ...... 263 of the Hands ...... 364 Hip Subluxation and Dislocation ...... 268 Brachytelephalangy ...... 365 Brachymesophalangy ...... 368 Brachyproxiphalangy ...... 372 Chapter 5 Brachymetacarpalia ...... 373 Radial Ray Deficiency ...... 379 Long Bones ...... 273 A. Castriota-Scanderbeg Ulnar-Ray Deficiency ...... 383 Central Ray Deficiency ...... 386 Abnormalities of the Shape Ter minal Transverse Defect ...... 390 and Contour of the Long Bones ...... 274 Other Anomalies of the Hand ...... 394 Broad Tubular Bones ...... 274 Preaxial Polydactyly ...... 394 Slender Tubular Bones ...... 277 Postaxial Polydactyly ...... 396 Bowed Tubular Bones ...... 280 Syndactyly ...... 399 Cortical Thickening ...... 291 Symphalangism ...... 404 Cortical Thinning ...... 299 Clinodactyly ...... 407 Limb Shortening ...... 302 Camptodactyly ...... 410 Rhizomelic Limb Shortening ...... 302 Angel-shaped Phalanges ...... 414 Mesomelic Limb Shortening ...... 305 Macrodactyly ...... 416 Abnormalities of the Long Bones Arachnodactyly ...... 419 in the Upper Extremities ...... 307 Epiphyseal Abnormalities ...... 422 Radioulnar Synostosis ...... 308 Cone-shaped Epiphyses ...... 422 Humeroradial and Humeroulnar Synostosis 311 Pseudoepiphyses ...... 426 Madelung Deformity...... 313 Ivory Epiphyses ...... 428 Content XIII

Carpal Abnormalities ...... 429 Carpal Angle Abnormalities ...... 430 Part II Supernumerary Carpal Bones ...... 432 Carpal Synostosis ...... 434 A. Castriota-Scanderbeg, B. Dallapiccola Thumb Abnormalities ...... 437 Thumb Hypoplasia/Aplasia ...... 437 Triphalangeal Thumb ...... 441 1Aarskog Syndrome ...... 576 Thumb Polydactyly ...... 445 2Achondrogenesis,Type IB...... 579 Acro-osteolyses ...... 446 3Achondrogenesis,Type II ...... 581 Acro-osteolysis, Phalangeal Type ...... 447 4Achondroplasia ...... 582 Acro-osteolysis, Carpotarsal Type ...... 451 5Acrofacial Dysostosis, Nager Type ...... 588 6Angelman Syndrome ...... 591 7Apert Syndrome ...... 593 Chapter 7 8Asphyxiating Thoracic Dysplasia ...... 597 9Atelosteogenesis...... 599 Feet ...... 455 10 Bardet-Biedl Syndrome ...... 605 A. Castriota-Scanderbeg 11 Beckwith-Wiedemann Syndrome ...... 607 Clubfoot and Other Foot Deformities ...... 456 12 C Syndrome ...... 609 Clubfoot/Metatarsus Adductus ...... 459 13 Campomelic Dysplasia ...... 611 Ver t ical Talus ...... 463 14 Carpenter Syndrome ...... 614 Tarsal Abnormalities ...... 466 15 Cerebro-costo-mandibular Syndrome . . . . 616 Tarsal Sy nostosis ...... 466 16 CHARGE Association ...... 618 Multiple Calcaneal Ossification Centers . . . 470 17 Chondrodysplasia Punctata, Conradi-Hünermann Type ...... 619 18 Chondrodysplasia Punctata, Chapter 8 Rhizomelic Form ...... 621 19 Chondrodysplasia Punctata, Joints ...... 473 Brachytelephalangic Type ...... 625 A. Castriota-Scanderbeg 20 Chondroectodermal Dysplasia ...... 627 Abnormalities of Joint Motion ...... 473 21 Chromosome 4p– Syndrome ...... 630 Joint Contracture, Joint Stiffness ...... 473 22 Chromosome Trisomy 13 Syndrome . . . . . 632 Ankylosis ...... 481 23 Chromosome Trisomy 18 Syndrome . . . . . 638 Joint Laxity, Joint Hypermobility ...... 485 24 Chromosome Trisomy 21 Syndrome . . . . . 642 Abnormalities of Joint Position ...... 489 25 Cleidocranial Dysplasia ...... 648 Joint Subluxation and Dislocation ...... 490 26 Cockayne Syndrome ...... 654 Premature Degenerative Joint Disease . . . . . 496 27 Coffin-Lowry Syndrome ...... 657 28 Coffin-Siris Syndrome ...... 659 29 Cohen Syndrome ...... 662 Chapter 9 30 Craniometaphyseal Dysplasia, Dominant Type ...... 664 Generalized Skeletal Abnormalities . . . . . 501 A. Castriota-Scanderbeg 31 Cri-du-chat Syndrome ...... 667 32 Crouzon Syndrome ...... 672 Osteoporosis ...... 501 33 De Lange Syndrome ...... 674 Osteosclerosis, Hyperostosis ...... 510 34 Diaphyseal Dysplasia ...... 676 Multiple Fractures, Bone Fragility ...... 516 35 Diastrophic Dysplasia ...... 679 Exostoses, Spurs, Horns ...... 521 36 Dubowitz Syndrome ...... 685 Multiple Radiolucent Defects, Lytic Lesions . . 527 37 Dyschondrosteosis ...... 688 Osteolyses ...... 538 38 Dysosteosclerosis ...... 690 Advanced Bone Age ...... 542 39 Ectodermal Dysplasias ...... 692 Delayed Bone Age ...... 548 40 Ehlers-Danlos Syndromes ...... 694 Soft Tissue Calcification and Ossification . . . . 552 41 Enchondromatosis ...... 696 Asymmetry (Hemihypertrophy, Hemiatrophy) 562 42 Exostoses, Multiple ...... 699 Dwarfism with Neonatal Death ...... 567 43 Fanconi Anemia ...... 705 XIV Content

44 Focal Dermal Hypoplasia Syndrome . . . . . 708 83 Prader-Willi Syndrome ...... 832 45 Freeman-Sheldon Syndrome ...... 712 84 Progeria ...... 835 46 Frontometaphyseal Dysplasia ...... 716 85 Pseudoachondroplasia ...... 838 47 Goldenhar Syndrome ...... 719 86 Pyknodysostosis ...... 845 48 Hallermann-Streiff Syndrome ...... 722 87 Roberts Syndrome ...... 849 49 Holt-Oram Syndrome ...... 724 88 Robin Sequence ...... 851 50 Kenny-Caffey Syndrome ...... 727 89 Robinow Syndrome ...... 853 51 Klippel-Feil Anomaly ...... 729 90 Rubinstein-Taybi Syndrome ...... 856 52 Klippel-Trenaunay-Weber Syndrome . . . . 732 91 Saethre-Chotzen Syndrome ...... 859 53 Kniest Dysplasia ...... 735 92 Seckel Syndrome ...... 863 54 Larsen Syndrome ...... 738 93 Short Rib-Polydactyly Syndrome, 55 Marfan Syndrome ...... 741 Type I ...... 866 56 McCune-Albright Syndrome ...... 744 94 Short Rib-Polydactyly Syndrome, 57 Meckel Syndrome ...... 748 Type II ...... 868 58 Melnick-Needles Syndrome ...... 750 95 Silver-Russell Syndrome ...... 870 59 Melorheostosis ...... 755 96 Smith-Lemli-Opitz Syndrome ...... 873 60 Mental Retardation, X-Linked, 97 Sotos Syndrome ...... 878 Associated with FRA Xq27.3 ...... 757 98 Spondyloepimetaphyseal Dysplasia, 61 Mesomelic Dwarfism, Langer Type ...... 759 Irapa Type ...... 881 62 Mesomelic Dwarfism, Nievergelt Type . . . . 762 99 Spondyloepimetaphyseal Dysplasia, 63 Metatropic Dysplasia ...... 764 Strudwick Type ...... 884 64 Multiple Epiphyseal Dysplasia ...... 767 100 Spondyloepiphyseal Dysplasia Congenita . 887 65 Nail–Patella Syndrome ...... 772 101 Spondyloepiphyseal Dysplasia Tarda . . . . 893 66 Nevoid Basal Cell Carcinoma Syndrome . . . 776 102 Spondylometaphyseal Dysplasia, 67 Noonan Syndrome ...... 780 Kozlowski Type ...... 897 68 Opitz Syndrome ...... 783 103 Stickler Syndrome ...... 902 69 Oro-facio-digital Syndrome, Type I...... 785 104 Thanatophoric Dysplasia ...... 907 70 Oro-facio-digital Syndrome, Type II . . . . . 787 105 Thrombocytopenia-Absent 71 Osteogenesis Imperfecta, Type I ...... 791 Radius Syndrome ...... 910 72 Osteogenesis Imperfecta, Type IIA ...... 794 106 Treacher-Collins Syndrome ...... 912 73 Osteogenesis Imperfecta, Type IIB/III . . . . 796 107 Tricho-rhino-phalangeal Syndrome, 74 Osteopathia Striata with Cranial Sclerosis . . 801 Type I ...... 915 75 Osteopetrosis, Infantile Type ...... 804 108 Tricho-rhino-phalangeal Syndrome, 76 Osteopetrosis, Adult Type ...... 807 Type II ...... 919 77 Osteopoikilosis ...... 811 109 Turner Syndrome ...... 922 78 Oto-palato-digital Syndrome, Type I. . . . . 814 110 VATER Association ...... 929 79 Oto-palato-digital Syndrome, Type II . . . . 819 111 Williams Syndrome ...... 931 80 Pena-Shokeir Syndrome ...... 823 81 Pfeiffer Syndrome ...... 827 82 Poland Syndrome ...... 830 Subject Index ...... 935