Abnormal Skeletal Phenotypes: From Simple Signs to Complex Diagnoses

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Springer Science & Business Media, Mar 20, 2006 - Medical - 962 pages
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When 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.
 

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Contents

Skull
3
Abnormalities of Cranial Development
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
Subject Index
935
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