Abnormal skeletal phenotypes: from simple signs to complex diagnoses
Gespeichert in:
| Hauptverfasser: | , |
|---|---|
| Format: | Elektronisch E-Book |
| Sprache: | English |
| Veröffentlicht: |
Berlin [u.a.]
Springer
2005
|
| Schlagworte: | |
| Online-Zugang: | Volltext Inhaltsverzeichnis |
| Beschreibung: | 1 Online-Ressource (XIV, 962 S.) zahlr. Ill |
| ISBN: | 9783540303619 |
| DOI: | 10.1007/3-540-30361-8 |
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| 100 | 1 | |a Castriota-Scanderbeg, Alessandro |e Verfasser |4 aut | |
| 245 | 1 | 0 | |a Abnormal skeletal phenotypes |b from simple signs to complex diagnoses |c Alessandro Castriota-Scanderbeg, Bruno Dallapicola |
| 264 | 1 | |a Berlin [u.a.] |b Springer |c 2005 | |
| 300 | |a 1 Online-Ressource (XIV, 962 S.) |b zahlr. Ill | ||
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| 700 | 1 | |a Dallapiccola, Bruno |e Verfasser |4 aut | |
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| adam_text | Chapter 1
Skull 3
A. Castriota Scanderbeg
Abnormalities of the Shape and/or Size
of the Skull 5
Microcephaly 5
Macrocephaly 11
Craniosynostosis 19
Abnormalities of Cranial Development
and Ossification 32
Calvarial Ossification Defects 32
Delayed Closure and/or Incomplete
Ossification of Sutures and Fontanels .... 41
Wormian Bones 46
Skull Thickening 53
Abnormalities of the Skull Base 64
Abnormalities of the Sella Turcica 65
Abnormalities of the Foramen Magnum ... 69
Basilar Impression 72
Abnormalities of the Facial Bones
and Sinonasal Cavities 75
Abnormalities of Orbital Size 75
Orbital Hypotelorism 78
Orbital Hypertelorism 80
Choanal Atresia 83
Facial Clefts 85
Small Sinuses 89
Abnormalities of the Mandible 91
Micrognathia 91
Prognathism 98
Intracranial Calcification 100
Content
Chapter 2
Thorax in
A. Castriota Scanderbeg
Abnormal Shape or Size of the Chest 112
Small Thorax 112
Pectus Excavatum 118
Pectus Carinatum 121
Rib Abnormalities 124
Short Ribs 124
Eleven Pairs of Ribs 125
Supernumerary Ribs 127
Slender, Thin, or Twisted Ribs 129
Wide or Thickened Ribs 132
Rib Notching 136
Defects in Segmentation 137
Flared or Cupped Ribs 140
Rib Gap 143
Clavicular Abnormalities 144
Aplasia and Hypoplasia 144
Slender Clavicles 148
Wide or Thickened Clavicles 150
Clavicles with Lateral Hooks 154
Scapular Abnormalities 156
Sternal Abnormalities 162
Chapter 3
Spine 167
A. Castriota Scanderbeg
Abnormal Shape or Size of Vertebrae 167
Tall Vertebrae 168
Beaked Vertebrae 170
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
Scoliosis and Kyphosis 210
Abnormalities of the Spinal Canal 218
Narrow Spinal Canal 218
Wide Spinal Canal 223
Atlanto axial Instability 226
Disc Calcification 230
Chapter 4
Pelvis 233
A. Castriota Scanderbeg
Abnormal Shape or Size of Ilia, Ischia,
and Pubic Bones 233
Small, Hypoplastic Pelvis 234
Flared Iliac Wings 240
Small Sciatic Notches 243
Iliac Crest Serration 244
Wide Interpubic Distance 246
Acetabular Abnormalities 248
Small Acetabular Angle 249
Protrusio Acetabuli 250
Abnormalities of the Femoral Head
and Neck 253
Slipped Capital Femoral Epiphysis 254
CoxaVara 257
CoxaValga 260
Early Ossification of the Femoral Head .... 263
Hypoplasia/Aplasia,
Irregularities, Fragmentation
of the Femoral Head 263
Hip Subluxation and Dislocation 268
Chapter 5
Long Bones 273
A. Castriota Scanderbeg
Abnormalities of the Shape
and Contour of the Long Bones 274
Broad Tubular Bones 274
Slender Tubular Bones 277
Bowed Tubular Bones 280
Cortical Thickening 291
Cortical Thinning 299
Limb Shortening 302
Rhizomelic Limb Shortening 302
Mesomelic Limb Shortening 305
Abnormalities of the Long Bones
in the Upper Extremities 307
Radioulnar Synostosis 308
Humeroradial and Humeroulnar Synostosis 311
Madelung Deformity 313
Abnormalities of the Long Bones
in the Lower Extremities 314
Genu Varum 314
GenuValgum 316
Proximal Femoral Focal Dysplasia 318
Tibial Bowing 320
Tibial Hemimelia 323
Fibular Hemimelia 324
Patellar Hypoplasia, Aplasia, Dysplasia,
and Dislocation 326
Epiphyseal Abnormalities 330
Stippled Epiphyses 330
Hypoplastic, Dysplastic,
Dysgenetic Epiphyses 333
Large Epiphyses 337
Aseptic Necrosis 339
Metaphyseal Abnormalities 343
Broad Metaphyses 343
Metaphyseal Cupping 346
Metaphyseal Spurs 350
Metaphyseal Bands 352
Irregular Metaphyses 356
Chapter 6
Hands 361
A. Castriota Scanderbeg,
B. Dallapiccola
Shortening or Absence of Components
of the Hands 364
Brachytelephalangy 365
Brachymesophalangy 368
Brachyproxiphalangy 372
Brachymetacarpalia 373
Radial Ray Deficiency 379
Ulnar Ray Deficiency 383
Central Ray Deficiency 386
Terminal Transverse Defect 390
Other Anomalies of the Hand 394
Preaxial Polydactyly 394
Postaxial Polydactyly 396
Syndactyly 399
Symphalangism 404
Clinodactyly 407
Camptodactyly 410
Angel shaped Phalanges 414
Macrodactyly 416
Arachnodactyly 419
Epiphyseal Abnormalities 422
Cone shaped Epiphyses 422
Pseudoepiphyses 426
Ivory Epiphyses 428
Carpal Abnormalities 429
Carpal Angle Abnormalities 430
Supernumerary Carpal Bones 432
Carpal Synostosis 434
Thumb Abnormalities 437
Thumb Hypoplasia/Aplasia 437
Triphalangeal Thumb 441
Thumb Polydactyly 445
Acro osteolyses 446
Acro osteolysis, Phalangeal Type 447
Acro osteolysis, Carpotarsal Type 451
Chapter 7
Feet 455
A. Castriota Scanderbeg
Clubfoot and Other Foot Deformities 456
Clubfoot/Metatarsus Adductus 459
Vertical Talus 463
Tarsal Abnormalities 466
Tarsal Synostosis 466
Multiple Calcaneal Ossification Centers . . . 470
Chapter 8
Joints 473
A. Castriota Scanderbeg
Abnormalities of Joint Motion 473
Joint Contracture, Joint Stiffness 473
Ankylosis 481
Joint Laxity, Joint Hypermobility 485
Abnormalities of Joint Position 489
Joint Subluxation and Dislocation 490
Premature Degenerative Joint Disease 496
Chapter 9
Generalized Skeletal Abnormalities 501
A. Castriota Scanderbeg
Osteoporosis 501
Osteosclerosis, Hyperostosis 510
Multiple Fractures, Bone Fragility 516
Exostoses, Spurs, Horns 521
Multiple Radiolucent Defects, Lytic Lesions . . 527
Osteolyses 538
Advanced Bone Age 542
Delayed Bone Age 548
Soft Tissue Calcification and Ossification .... 552
Asymmetry (Hemihypertrophy, Hemiatrophy) 562
Dwarfism with Neonatal Death 567
Content XIII
A. Castriota Scanderbeg, B. Dallapiccola
1 Aarskog Syndrome 576
2 Achondrogenesis, Type IB 579
3 Achondrogenesis, Type II 581
4 Achondroplasia 582
5 Acrofacial Dysostosis, Nager Type 588
6 Angelman Syndrome 591
7 Apert Syndrome 593
8 Asphyxiating Thoracic Dysplasia 597
9 Atelosteogenesis 599
10 Bardet Biedl Syndrome 605
11 Beckwith Wiedemann Syndrome 607
12 C Syndrome 609
13 Campomelic Dysplasia 611
14 Carpenter Syndrome 614
15 Cerebro costo mandibular Syndrome .... 616
16 CHARGE Association 618
17 Chondrodysplasia Punctata,
Conradi Hiinermann Type 619
18 Chondrodysplasia Punctata,
Rhizomelic Form 621
19 Chondrodysplasia Punctata,
Brachytelephalangic Type 625
20 Chondroectodermal Dysplasia 627
21 Chromosome 4p Syndrome 630
22 Chromosome Trisomy 13 Syndrome 632
23 Chromosome Trisomy 18 Syndrome 638
24 Chromosome Trisomy 21 Syndrome 642
25 Cleidocranial Dysplasia 648
26 Cockayne Syndrome 654
27 Coffin Lowry Syndrome 657
28 Coffin Siris Syndrome 659
29 Cohen Syndrome 662
30 Craniometaphyseal Dysplasia,
Dominant Type 664
31 Cri du chat Syndrome 667
32 Crouzon Syndrome 672
33 De Lange Syndrome 674
34 Diaphyseal Dysplasia 676
35 Diastrophic Dysplasia 679
36 Dubowitz Syndrome 685
37 Dyschondrosteosis 688
38 Dysosteosclerosis 690
39 Ectodermal Dysplasias 692
40 Ehlers Danlos Syndromes 694
41 Enchondromatosis 696
42 Exostoses, Multiple 699
43 Fanconi Anemia 705
XIV Content
44 Focal Dermal Hypoplasia Syndrome 708
45 Freeman Sheldon Syndrome 712
46 Frontometaphyseal Dysplasia 716
47 Goldenhar Syndrome 719
48 Hallermann Streiff Syndrome 722
49 Holt Oram Syndrome 724
50 Kenny Caffey Syndrome 727
51 Klippel Feil Anomaly 729
52 Klippel Trenaunay Weber Syndrome .... 732
53 Kniest Dysplasia 735
54 Larsen Syndrome 738
55 Marfan Syndrome 741
56 McCune Albright Syndrome 744
57 Meckel Syndrome 748
58 Melnick Needles Syndrome 750
59 Melorheostosis 755
60 Mental Retardation, X Linked,
Associated with FRA Xq27.3 757
61 Mesomelic Dwarfism, Langer Type 759
62 Mesomelic Dwarfism, Nievergelt Type .... 762
63 Metatropic Dysplasia 764
64 Multiple Epiphyseal Dysplasia 767
65 Nail Patella Syndrome 772
66 Nevoid Basal Cell Carcinoma Syndrome . . . 776
67 Noonan Syndrome 780
68 Opitz Syndrome 783
69 Oro facio digital Syndrome, Type 1 785
70 Oro facio digital Syndrome, Type II 787
71 Osteogenesis Imperfecta, Type I 791
72 Osteogenesis Imperfecta, Type IIA 794
73 Osteogenesis Imperfecta, Type IIB/III .... 796
74 Osteopathia Striata with Cranial Sclerosis . . 801
75 Osteopetrosis, Infantile Type 804
76 Osteopetrosis, Adult Type 807
77 Osteopoikilosis 811
78 Oto palato digital Syndrome, Type I 814
79 Oto palato digital Syndrome, Type II .... 819
80 Pena Shokeir Syndrome 823
81 Pfeiffer Syndrome 827
82 Poland Syndrome 830
83 Prader Willi Syndrome 832
84 Progeria 835
85 Pseudoachondroplasia 838
86 Pyknodysostosis 845
87 Roberts Syndrome 849
88 Robin Sequence 851
89 Robinow Syndrome 853
90 Rubinstein Taybi Syndrome 856
91 Saethre Chotzen Syndrome 859
92 Seckel Syndrome 863
93 Short Rib Polydactyly Syndrome,
Type I 866
94 Short Rib Polydactyly Syndrome,
Type II 868
95 Silver Russell Syndrome 870
96 Smith Lemli Opitz Syndrome 873
97 Sotos Syndrome 878
98 Spondyloepimetaphyseal Dysplasia,
Irapa Type 881
99 Spondyloepimetaphyseal Dysplasia,
Strudwick Type 884
100 Spondyloepiphyseal Dysplasia Congenita . 887
101 Spondyloepiphyseal Dysplasia Tarda .... 893
102 Spondylometaphyseal Dysplasia,
Kozlowski Type 897
103 Stickler Syndrome 902
104 Thanatophoric Dysplasia 907
105 Thrombocytopenia Absent
Radius Syndrome 910
106 Treacher Collins Syndrome 912
107 Tricho rhino phalangeal Syndrome,
Type I 915
108 Tricho rhino phalangeal Syndrome,
Type II 919
109 Turner Syndrome 922
110 VATER Association 929
111 Williams Syndrome 931
Subject Index 935
|
| adam_txt |
Chapter 1
Skull 3
A. Castriota Scanderbeg
Abnormalities of the Shape and/or Size
of the Skull 5
Microcephaly 5
Macrocephaly 11
Craniosynostosis 19
Abnormalities of Cranial Development
and Ossification 32
Calvarial Ossification Defects 32
Delayed Closure and/or Incomplete
Ossification of Sutures and Fontanels . 41
Wormian Bones 46
Skull Thickening 53
Abnormalities of the Skull Base 64
Abnormalities of the Sella Turcica 65
Abnormalities of the Foramen Magnum . 69
Basilar Impression 72
Abnormalities of the Facial Bones
and Sinonasal Cavities 75
Abnormalities of Orbital Size 75
Orbital Hypotelorism 78
Orbital Hypertelorism 80
Choanal Atresia 83
Facial Clefts 85
Small Sinuses 89
Abnormalities of the Mandible 91
Micrognathia 91
Prognathism 98
Intracranial Calcification 100
Content
Chapter 2
Thorax in
A. Castriota Scanderbeg
Abnormal Shape or Size of the Chest 112
Small Thorax 112
Pectus Excavatum 118
Pectus Carinatum 121
Rib Abnormalities 124
Short Ribs 124
Eleven Pairs of Ribs 125
Supernumerary Ribs 127
Slender, Thin, or Twisted Ribs 129
Wide or Thickened Ribs 132
Rib Notching 136
Defects in Segmentation 137
Flared or Cupped Ribs 140
Rib Gap 143
Clavicular Abnormalities 144
Aplasia and Hypoplasia 144
Slender Clavicles 148
Wide or Thickened Clavicles 150
Clavicles with Lateral Hooks 154
Scapular Abnormalities 156
Sternal Abnormalities 162
Chapter 3
Spine 167
A. Castriota Scanderbeg
Abnormal Shape or Size of Vertebrae 167
Tall Vertebrae 168
Beaked Vertebrae 170
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
Scoliosis and Kyphosis 210
Abnormalities of the Spinal Canal 218
Narrow Spinal Canal 218
Wide Spinal Canal 223
Atlanto axial Instability 226
Disc Calcification 230
Chapter 4
Pelvis 233
A. Castriota Scanderbeg
Abnormal Shape or Size of Ilia, Ischia,
and Pubic Bones 233
Small, Hypoplastic Pelvis 234
Flared Iliac Wings 240
Small Sciatic Notches 243
Iliac Crest Serration 244
Wide Interpubic Distance 246
Acetabular Abnormalities 248
Small Acetabular Angle 249
Protrusio Acetabuli 250
Abnormalities of the Femoral Head
and Neck 253
Slipped Capital Femoral Epiphysis 254
CoxaVara 257
CoxaValga 260
Early Ossification of the Femoral Head . 263
Hypoplasia/Aplasia,
Irregularities, Fragmentation
of the Femoral Head 263
Hip Subluxation and Dislocation 268
Chapter 5
Long Bones 273
A. Castriota Scanderbeg
Abnormalities of the Shape
and Contour of the Long Bones 274
Broad Tubular Bones 274
Slender Tubular Bones 277
Bowed Tubular Bones 280
Cortical Thickening 291
Cortical Thinning 299
Limb Shortening 302
Rhizomelic Limb Shortening 302
Mesomelic Limb Shortening 305
Abnormalities of the Long Bones
in the Upper Extremities 307
Radioulnar Synostosis 308
Humeroradial and Humeroulnar Synostosis 311
Madelung Deformity 313
Abnormalities of the Long Bones
in the Lower Extremities 314
Genu Varum 314
GenuValgum 316
Proximal Femoral Focal Dysplasia 318
Tibial Bowing 320
Tibial Hemimelia 323
Fibular Hemimelia 324
Patellar Hypoplasia, Aplasia, Dysplasia,
and Dislocation 326
Epiphyseal Abnormalities 330
Stippled Epiphyses 330
Hypoplastic, Dysplastic,
Dysgenetic Epiphyses 333
Large Epiphyses 337
Aseptic Necrosis 339
Metaphyseal Abnormalities 343
Broad Metaphyses 343
Metaphyseal Cupping 346
Metaphyseal Spurs 350
Metaphyseal Bands 352
Irregular Metaphyses 356
Chapter 6
Hands 361
A. Castriota Scanderbeg,
B. Dallapiccola
Shortening or Absence of Components
of the Hands 364
Brachytelephalangy 365
Brachymesophalangy 368
Brachyproxiphalangy 372
Brachymetacarpalia 373
Radial Ray Deficiency 379
Ulnar Ray Deficiency 383
Central Ray Deficiency 386
Terminal Transverse Defect 390
Other Anomalies of the Hand 394
Preaxial Polydactyly 394
Postaxial Polydactyly 396
Syndactyly 399
Symphalangism 404
Clinodactyly 407
Camptodactyly 410
Angel shaped Phalanges 414
Macrodactyly 416
Arachnodactyly 419
Epiphyseal Abnormalities 422
Cone shaped Epiphyses 422
Pseudoepiphyses 426
Ivory Epiphyses 428
Carpal Abnormalities 429
Carpal Angle Abnormalities 430
Supernumerary Carpal Bones 432
Carpal Synostosis 434
Thumb Abnormalities 437
Thumb Hypoplasia/Aplasia 437
Triphalangeal Thumb 441
Thumb Polydactyly 445
Acro osteolyses 446
Acro osteolysis, Phalangeal Type 447
Acro osteolysis, Carpotarsal Type 451
Chapter 7
Feet 455
A. Castriota Scanderbeg
Clubfoot and Other Foot Deformities 456
Clubfoot/Metatarsus Adductus 459
Vertical Talus 463
Tarsal Abnormalities 466
Tarsal Synostosis 466
Multiple Calcaneal Ossification Centers . . . 470
Chapter 8
Joints 473
A. Castriota Scanderbeg
Abnormalities of Joint Motion 473
Joint Contracture, Joint Stiffness 473
Ankylosis 481
Joint Laxity, Joint Hypermobility 485
Abnormalities of Joint Position 489
Joint Subluxation and Dislocation 490
Premature Degenerative Joint Disease 496
Chapter 9
Generalized Skeletal Abnormalities 501
A. Castriota Scanderbeg
Osteoporosis 501
Osteosclerosis, Hyperostosis 510
Multiple Fractures, Bone Fragility 516
Exostoses, Spurs, Horns 521
Multiple Radiolucent Defects, Lytic Lesions . . 527
Osteolyses 538
Advanced Bone Age 542
Delayed Bone Age 548
Soft Tissue Calcification and Ossification . 552
Asymmetry (Hemihypertrophy, Hemiatrophy) 562
Dwarfism with Neonatal Death 567
Content XIII
A. Castriota Scanderbeg, B. Dallapiccola
1 Aarskog Syndrome 576
2 Achondrogenesis, Type IB 579
3 Achondrogenesis, Type II 581
4 Achondroplasia 582
5 Acrofacial Dysostosis, Nager Type 588
6 Angelman Syndrome 591
7 Apert Syndrome 593
8 Asphyxiating Thoracic Dysplasia 597
9 Atelosteogenesis 599
10 Bardet Biedl Syndrome 605
11 Beckwith Wiedemann Syndrome 607
12 C Syndrome 609
13 Campomelic Dysplasia 611
14 Carpenter Syndrome 614
15 Cerebro costo mandibular Syndrome . 616
16 CHARGE Association 618
17 Chondrodysplasia Punctata,
Conradi Hiinermann Type 619
18 Chondrodysplasia Punctata,
Rhizomelic Form 621
19 Chondrodysplasia Punctata,
Brachytelephalangic Type 625
20 Chondroectodermal Dysplasia 627
21 Chromosome 4p Syndrome 630
22 Chromosome Trisomy 13 Syndrome 632
23 Chromosome Trisomy 18 Syndrome 638
24 Chromosome Trisomy 21 Syndrome 642
25 Cleidocranial Dysplasia 648
26 Cockayne Syndrome 654
27 Coffin Lowry Syndrome 657
28 Coffin Siris Syndrome 659
29 Cohen Syndrome 662
30 Craniometaphyseal Dysplasia,
Dominant Type 664
31 Cri du chat Syndrome 667
32 Crouzon Syndrome 672
33 De Lange Syndrome 674
34 Diaphyseal Dysplasia 676
35 Diastrophic Dysplasia 679
36 Dubowitz Syndrome 685
37 Dyschondrosteosis 688
38 Dysosteosclerosis 690
39 Ectodermal Dysplasias 692
40 Ehlers Danlos Syndromes 694
41 Enchondromatosis 696
42 Exostoses, Multiple 699
43 Fanconi Anemia 705
XIV Content
44 Focal Dermal Hypoplasia Syndrome 708
45 Freeman Sheldon Syndrome 712
46 Frontometaphyseal Dysplasia 716
47 Goldenhar Syndrome 719
48 Hallermann Streiff Syndrome 722
49 Holt Oram Syndrome 724
50 Kenny Caffey Syndrome 727
51 Klippel Feil Anomaly 729
52 Klippel Trenaunay Weber Syndrome . 732
53 Kniest Dysplasia 735
54 Larsen Syndrome 738
55 Marfan Syndrome 741
56 McCune Albright Syndrome 744
57 Meckel Syndrome 748
58 Melnick Needles Syndrome 750
59 Melorheostosis 755
60 Mental Retardation, X Linked,
Associated with FRA Xq27.3 757
61 Mesomelic Dwarfism, Langer Type 759
62 Mesomelic Dwarfism, Nievergelt Type . 762
63 Metatropic Dysplasia 764
64 Multiple Epiphyseal Dysplasia 767
65 Nail Patella Syndrome 772
66 Nevoid Basal Cell Carcinoma Syndrome . . . 776
67 Noonan Syndrome 780
68 Opitz Syndrome 783
69 Oro facio digital Syndrome, Type 1 785
70 Oro facio digital Syndrome, Type II 787
71 Osteogenesis Imperfecta, Type I 791
72 Osteogenesis Imperfecta, Type IIA 794
73 Osteogenesis Imperfecta, Type IIB/III . 796
74 Osteopathia Striata with Cranial Sclerosis . . 801
75 Osteopetrosis, Infantile Type 804
76 Osteopetrosis, Adult Type 807
77 Osteopoikilosis 811
78 Oto palato digital Syndrome, Type I 814
79 Oto palato digital Syndrome, Type II . 819
80 Pena Shokeir Syndrome 823
81 Pfeiffer Syndrome 827
82 Poland Syndrome 830
83 Prader Willi Syndrome 832
84 Progeria 835
85 Pseudoachondroplasia 838
86 Pyknodysostosis 845
87 Roberts Syndrome 849
88 Robin Sequence 851
89 Robinow Syndrome 853
90 Rubinstein Taybi Syndrome 856
91 Saethre Chotzen Syndrome 859
92 Seckel Syndrome 863
93 Short Rib Polydactyly Syndrome,
Type I 866
94 Short Rib Polydactyly Syndrome,
Type II 868
95 Silver Russell Syndrome 870
96 Smith Lemli Opitz Syndrome 873
97 Sotos Syndrome 878
98 Spondyloepimetaphyseal Dysplasia,
Irapa Type 881
99 Spondyloepimetaphyseal Dysplasia,
Strudwick Type 884
100 Spondyloepiphyseal Dysplasia Congenita . 887
101 Spondyloepiphyseal Dysplasia Tarda . 893
102 Spondylometaphyseal Dysplasia,
Kozlowski Type 897
103 Stickler Syndrome 902
104 Thanatophoric Dysplasia 907
105 Thrombocytopenia Absent
Radius Syndrome 910
106 Treacher Collins Syndrome 912
107 Tricho rhino phalangeal Syndrome,
Type I 915
108 Tricho rhino phalangeal Syndrome,
Type II 919
109 Turner Syndrome 922
110 VATER Association 929
111 Williams Syndrome 931
Subject Index 935 |
| any_adam_object | 1 |
| any_adam_object_boolean | 1 |
| author | Castriota-Scanderbeg, Alessandro Dallapiccola, Bruno |
| author_facet | Castriota-Scanderbeg, Alessandro Dallapiccola, Bruno |
| author_role | aut aut |
| author_sort | Castriota-Scanderbeg, Alessandro |
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| classification_tum | MED 000 |
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| ctrlnum | (OCoLC)316008342 (DE-599)BVBBV022294625 |
| discipline | Medizin |
| discipline_str_mv | Medizin |
| doi_str_mv | 10.1007/3-540-30361-8 |
| format | Electronic eBook |
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| id | DE-604.BV022294625 |
| illustrated | Not Illustrated |
| index_date | 2024-07-02T16:52:58Z |
| indexdate | 2024-08-01T16:15:32Z |
| institution | BVB |
| isbn | 9783540303619 |
| language | English |
| oai_aleph_id | oai:aleph.bib-bvb.de:BVB01-015504732 |
| oclc_num | 316008342 |
| open_access_boolean | |
| owner | DE-355 DE-BY-UBR DE-188 DE-12 DE-384 DE-473 DE-BY-UBG DE-703 DE-29 DE-19 DE-BY-UBM DE-91 DE-BY-TUM DE-739 DE-20 DE-706 DE-1046 DE-1047 DE-1102 DE-858 DE-1028 DE-573 DE-859 DE-860 DE-M347 DE-1049 DE-92 DE-898 DE-BY-UBR DE-863 DE-BY-FWS DE-862 DE-BY-FWS DE-128 DE-54 DE-22 DE-BY-UBG DE-150 DE-155 DE-BY-UBR DE-2070s DE-521 DE-522 DE-526 DE-11 DE-83 DE-70 DE-634 |
| owner_facet | DE-355 DE-BY-UBR DE-188 DE-12 DE-384 DE-473 DE-BY-UBG DE-703 DE-29 DE-19 DE-BY-UBM DE-91 DE-BY-TUM DE-739 DE-20 DE-706 DE-1046 DE-1047 DE-1102 DE-858 DE-1028 DE-573 DE-859 DE-860 DE-M347 DE-1049 DE-92 DE-898 DE-BY-UBR DE-863 DE-BY-FWS DE-862 DE-BY-FWS DE-128 DE-54 DE-22 DE-BY-UBG DE-150 DE-155 DE-BY-UBR DE-2070s DE-521 DE-522 DE-526 DE-11 DE-83 DE-70 DE-634 |
| physical | 1 Online-Ressource (XIV, 962 S.) zahlr. Ill |
| psigel | ZDB-1-SMI ZDB-2-SME |
| publishDate | 2005 |
| publishDateSearch | 2005 |
| publishDateSort | 2005 |
| publisher | Springer |
| record_format | marc |
| spellingShingle | Castriota-Scanderbeg, Alessandro Dallapiccola, Bruno Abnormal skeletal phenotypes from simple signs to complex diagnoses Missbildung (DE-588)4039561-3 gnd Skelett (DE-588)4133111-4 gnd |
| subject_GND | (DE-588)4039561-3 (DE-588)4133111-4 |
| title | Abnormal skeletal phenotypes from simple signs to complex diagnoses |
| title_auth | Abnormal skeletal phenotypes from simple signs to complex diagnoses |
| title_exact_search | Abnormal skeletal phenotypes from simple signs to complex diagnoses |
| title_exact_search_txtP | Abnormal skeletal phenotypes from simple signs to complex diagnoses |
| title_full | Abnormal skeletal phenotypes from simple signs to complex diagnoses Alessandro Castriota-Scanderbeg, Bruno Dallapicola |
| title_fullStr | Abnormal skeletal phenotypes from simple signs to complex diagnoses Alessandro Castriota-Scanderbeg, Bruno Dallapicola |
| title_full_unstemmed | Abnormal skeletal phenotypes from simple signs to complex diagnoses Alessandro Castriota-Scanderbeg, Bruno Dallapicola |
| title_short | Abnormal skeletal phenotypes |
| title_sort | abnormal skeletal phenotypes from simple signs to complex diagnoses |
| title_sub | from simple signs to complex diagnoses |
| topic | Missbildung (DE-588)4039561-3 gnd Skelett (DE-588)4133111-4 gnd |
| topic_facet | Missbildung Skelett |
| url | https://doi.org/10.1007/3-540-30361-8 http://bvbr.bib-bvb.de:8991/F?func=service&doc_library=BVB01&local_base=BVB01&doc_number=015504732&sequence=000002&line_number=0001&func_code=DB_RECORDS&service_type=MEDIA |
| work_keys_str_mv | AT castriotascanderbegalessandro abnormalskeletalphenotypesfromsimplesignstocomplexdiagnoses AT dallapiccolabruno abnormalskeletalphenotypesfromsimplesignstocomplexdiagnoses |