Goldenhar Syndrome Omim

Part I

Chapter 1

Skull 3

A. CASTRIOTA-SCANDERBEG

Abnormalities of the Shape and/or Size of the Skull 5

Microcephaly 5

Macro cephaly 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

Chapter 2

Thorax 111

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

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

Coxa Vara 257

Coxa Valga 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

Genu Valgum 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

Part II

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-H√ľnermann 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

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

Part I

3HHMAP

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