Abnormal Skeletal Phenotypes: From Simple Signs to Complex DiagnosesWhen one is asked to review a manuscript in order of the different parts of the skeleton and comprises to write a foreword,one always asks oneself,“Is there about 600 pages. anything special about this book?”“Does it supply The reader will ?nd something about the in- us with unique information?”I hesitate to think how dence, anatomic location, pathogenesis, differential many years ago it was when I ?rst discussed with diagnosis, diagnostic relevance, and, if known, Dr. Alessandro Castriota-Scanderbeg the possible the pattern of inheritance.This approach to the s- publication of this book. It may well have been a ject, which is essentially symptom-based, contrasts decade ago. I seem to remember that I encouraged markedly with the conventional texts that either s- him to write a text that was truly different from the tematically report a given disorder or list the features classic ones. that form a gamut. That this most remarkable ?rst edition is unique is In addition, the authors provide a second part of easily illustrated. I have personally picked an area I 300 pages in which they cover approximately 100 am less familiar with. In Chap. 2,“The Thorax,”the syndromes, congenital anomaly syndromes, skeletal following sections are covered: embryology of the dysplasias, and chromosomal disorders to aid in thorax, abnormal shape and size of the chest, small major differential diagnosis. Of special value is the thorax and various conditions that exhibit that sign. presentation of variability of the condition with age. |
Contents
3 | |
32 | |
Abnormalities of the Skull Base | 64 |
Abnormalities of the Facial Bones | 75 |
Abnormalities of the Mandible | 91 |
Intracranial Calcification | 100 |
Part I | 111 |
Rib Abnormalities | 124 |
Chromosome Trisomy 18 Syndrome | 638 |
Cleidocranial Dysplasia | 648 |
Cockayne Syndrome | 654 |
Cohen Syndrome | 662 |
Crouzon Syndrome | 672 |
Diastrophic Dysplasia | 679 |
Dubowitz Syndrome | 685 |
Ectodermal Dysplasias | 692 |
Clavicular Abnormalities | 144 |
Scapular Abnormalities | 156 |
Sternal Abnormalities | 162 |
Defects of Spinal Alignment | 210 |
Abnormalities of the Spinal Canal | 218 |
Atlantoaxial Instability | 226 |
Chapter 4 | 233 |
Acetabular Abnormalities | 248 |
Chapter 5 | 273 |
Limb Shortening | 302 |
Chapter 6 | 361 |
Other Anomalies of the Hand | 394 |
Epiphyseal Abnormalities | 422 |
Carpal Abnormalities | 429 |
Thumb Abnormalities | 437 |
Acroosteolyses | 446 |
Chapter 7 | 455 |
Tarsal Abnormalities | 466 |
Chapter 8 | 473 |
Abnormalities of Joint Position | 489 |
Premature Degenerative Joint Disease | 496 |
Osteosclerosis Hyperostosis | 510 |
Multiple Fractures Bone Fragility | 516 |
Multiple Radiolucent Defects Lytic Lesions | 527 |
Osteolyses | 538 |
Delayed Bone Age | 548 |
Asymmetry Hemihypertrophy Hemiatrophy | 562 |
Aarskog Syndrome | 576 |
Achondroplasia | 582 |
Acrofacial DysostosisNager Type | 588 |
Asphyxiating Thoracic Dysplasia | 597 |
BardetBiedl Syndrome | 605 |
Campomelic Dysplasia | 611 |
CHARGE Association | 618 |
Brachytelephalangic Type | 625 |
Chromosome Trisomy 13 Syndrome | 632 |
ExostosesMultiple | 699 |
Fanconi Anemia | 705 |
Focal Dermal Hypoplasia Syndrome 708 45 FreemanSheldon Syndrome 712 46 Frontometaphyseal Dysplasia 716 47 Goldenhar Syndrome 719 48 ... | 823 |
Pfeiffer Syndrome | 827 |
Poland Syndrome 830 83 PraderWilli Syndrome | 832 |
Progeria | 835 |
Pseudoachondroplasia | 838 |
Pyknodysostosis | 845 |
Roberts Syndrome | 849 |
Robin Sequence | 851 |
Robinow Syndrome | 853 |
RubinsteinTaybi Syndrome | 856 |
SaethreChotzen Syndrome | 859 |
Seckel Syndrome | 863 |
Short RibPolydactyly Syndrome Type I | 866 |
Type II | 868 |
SilverRussell Syndrome | 870 |
SmithLemliOpitz Syndrome | 873 |
Sotos Syndrome | 878 |
Spondyloepimetaphyseal Dysplasia Irapa Type | 881 |
Strudwick Type | 884 |
Spondyloepiphyseal Dysplasia Congenita | 887 |
Spondyloepiphyseal Dysplasia Tarda | 893 |
Spondylometaphyseal Dysplasia Kozlowski Type | 897 |
Stickler Syndrome | 902 |
Thanatophoric Dysplasia | 907 |
ThrombocytopeniaAbsent Radius Syndrome | 910 |
TreacherCollins Syndrome | 912 |
Trichorhinophalangeal Syndrome Type I | 915 |
Type II | 919 |
Turner Syndrome | 922 |
VATER Association | 929 |
Williams Syndrome | 931 |
935 | |
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Common terms and phrases
abnormalities absence additional affected anomalies aplasia appearance areas associated autosomal dominant autosomal recessive bilateral birth bodies bone bowing broad calcification carpal caused cell cervical changes characterized child chromosome clavicles cleft Clin clinical common condition congenital cranial defects deficiency deformity diagnosis disease dislocation disorder distal drome dysplasia epiphyses et al facial familial feet femoral femur findings fingers fractures fusion gene Genet growth hands head Holt-Oram syndrome hypoplasia hypoplastic Hypothyroidism increased inheritance involvement irregular isolated joint lateral lesions limb long bones malformation manifestations Med Genet mental metacarpal metaphyseal mild multiple mutations narrow normal Note occur Orthop ossification palate patients pattern Pediatr phalanges polydactyly posterior progressive prominent proximal Radiographic Radiol Radiology References resulting retardation ribs rickets sclerosis seen severe short shortening skeletal skull spinal spine syndrome OMIM thin thumb tion tissue tubular bones usually variable vertebral