Abnormal Skeletal Phenotypes
From Simple Signs to Complex Diagnoses
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.
Thorax
Spine
Pelvis
Long Bones
Hands
Feet
Joints
Generalized Skeletal Abnormalities
II
Aarskog Syndrome
Achondrogenesis, Type IB
Achondrogenesis, Type II
Achondroplasia
Acrofacial Dysostosis, Nager Type
Angelman Syndrome
Apert Syndrome
Asphyxiating Thoracic Dysplasia
Atelosteogenesis
Bardet-Biedl Syndrome
Beckwith-Wiedemann Syndrome
C Syndrome
Campomelic Dysplasia
Carpenter Syndrome
Cerebro-costo-mandibular Syndrome
CHARGE Association
Chondrodysplasia Punctata, Conradi-Hünermann Type
Chondrodysplasia Punctata, Rhizomelic Type
Chondrodysplasia Punctata, Brachytelephalangic Type
Chondroectodermal Dysplasia
Chromosome 4p- Syndrome
Chromosome Trisomy 13 Syndrome
Chromosome Trisomy 18 Syndrome
Chromosome Trisomy 21 Syndrome
Cleidocranial Dysplasia
Cockayne Syndrome
Coffin-Lowry Syndrome
Coffin-Siris Syndrome
Cohen Syndrome
Craniometaphyseal Dysplasia, Dominant Type
Cri-du-chat Syndrome
Crouzon Syndrome
De Lange Syndrome
Diaphyseal Dysplasia
Diastrophic Dysplasia
Dubowitz Syndrome
Dyschondrosteosis
Dysosteosclerosis
Ectodermal Dysplasias
Ehlers-Danlos Syndromes
Enchondromatosis
Exostoses, Multiple
Fanconi Anemia
Focal Dermal Hypoplasia Syndrome
Freeman-Sheldon Syndrome
Frontometaphyseal Dysplasia
Goldenhar Syndrome
Hallermann-Streiff Syndrome
Holt-Oram Syndrome
Kenny-Caffey Syndrome
Klippel-Feil Anomaly
Klippel-Trenaunay-Weber Syndrome
Kniest Dysplasia
Larsen Syndrome
Marfan Syndrome
McCune-Albright Syndrome
Meckel Syndrome
Melnick-Needles Syndrome
Melorheostosis
Mental Retardation, X-Linked, Associated with FRA Xq27.3
Mesomelic Dwarfism, Langer Type
Mesomelic Dwarfism, Nievergelt Type
Metatropic Dysplasia
MultipleEpiphyseal Dysplasia
Nail-Patella Syndrome
Nevoid Basal Cell Carcinoma Syndrome
Noonan Syndrome
Opitz Syndrome
Oro-facio-digital Syndrome, Type I
Oro-facio-digital Syndrome, Type II
Osteogenesis Imperfecta, Type I
Osteogenesis Imperfecta, Type IIA
Osteogenesis Imperfecta, Type IIB/III
Osteopathia Striata with Cranial Sclerosis
Osteopetrosis, Infantile Type
Osteopetrosis, Adult Type
Osteopoikilosis
Oto-palato-digital Syndrome, Type I
Oto-palato-digital Syndrome, Type II
Pena-Shokeir Syndrome
Pfeiffer Syndrome
Poland Syndrome
Prader-Willi Syndrome
Progeria
Pseudoachondroplasia
Pyknodysostosis
Roberts Syndrome
Robin Sequence
Robinow Syndrome
Rubinstein-Taybi Syndrome
Saethre-Chotzen Syndrome
Seckel Syndrome
Short Rib-Polydactyly Syndrome, Type I
Short Rib-Polydactyly Syndrome, Type II
Silver-Russell Syndrome
Smith-Lemli-Opitz Syndrome
Sotos Syndrome
Spondyloepimetaphyseal Dysplasia, Irapa Type
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Spondyloepiphyseal Dysplasia Congenita
Spondyloepiphyseal Dysplasia Tarda
Spondylometaphyseal Dysplasia, Kozlowski Type
Stickler Syndrome
Thanatophoric Dysplasia
Thrombocytopenia-Absent Radius Syndrome
Treacher-Collins Syndrome
Tricho-rhino-phalangeal Syndrome, Type I
Tricho-rhino-phalangeal Syndrome, Type II
Turner Syndrome
VATER Association
Williams Syndrome.
I
SkullThorax
Spine
Pelvis
Long Bones
Hands
Feet
Joints
Generalized Skeletal Abnormalities
II
Aarskog Syndrome
Achondrogenesis, Type IB
Achondrogenesis, Type II
Achondroplasia
Acrofacial Dysostosis, Nager Type
Angelman Syndrome
Apert Syndrome
Asphyxiating Thoracic Dysplasia
Atelosteogenesis
Bardet-Biedl Syndrome
Beckwith-Wiedemann Syndrome
C Syndrome
Campomelic Dysplasia
Carpenter Syndrome
Cerebro-costo-mandibular Syndrome
CHARGE Association
Chondrodysplasia Punctata, Conradi-Hünermann Type
Chondrodysplasia Punctata, Rhizomelic Type
Chondrodysplasia Punctata, Brachytelephalangic Type
Chondroectodermal Dysplasia
Chromosome 4p- Syndrome
Chromosome Trisomy 13 Syndrome
Chromosome Trisomy 18 Syndrome
Chromosome Trisomy 21 Syndrome
Cleidocranial Dysplasia
Cockayne Syndrome
Coffin-Lowry Syndrome
Coffin-Siris Syndrome
Cohen Syndrome
Craniometaphyseal Dysplasia, Dominant Type
Cri-du-chat Syndrome
Crouzon Syndrome
De Lange Syndrome
Diaphyseal Dysplasia
Diastrophic Dysplasia
Dubowitz Syndrome
Dyschondrosteosis
Dysosteosclerosis
Ectodermal Dysplasias
Ehlers-Danlos Syndromes
Enchondromatosis
Exostoses, Multiple
Fanconi Anemia
Focal Dermal Hypoplasia Syndrome
Freeman-Sheldon Syndrome
Frontometaphyseal Dysplasia
Goldenhar Syndrome
Hallermann-Streiff Syndrome
Holt-Oram Syndrome
Kenny-Caffey Syndrome
Klippel-Feil Anomaly
Klippel-Trenaunay-Weber Syndrome
Kniest Dysplasia
Larsen Syndrome
Marfan Syndrome
McCune-Albright Syndrome
Meckel Syndrome
Melnick-Needles Syndrome
Melorheostosis
Mental Retardation, X-Linked, Associated with FRA Xq27.3
Mesomelic Dwarfism, Langer Type
Mesomelic Dwarfism, Nievergelt Type
Metatropic Dysplasia
MultipleEpiphyseal Dysplasia
Nail-Patella Syndrome
Nevoid Basal Cell Carcinoma Syndrome
Noonan Syndrome
Opitz Syndrome
Oro-facio-digital Syndrome, Type I
Oro-facio-digital Syndrome, Type II
Osteogenesis Imperfecta, Type I
Osteogenesis Imperfecta, Type IIA
Osteogenesis Imperfecta, Type IIB/III
Osteopathia Striata with Cranial Sclerosis
Osteopetrosis, Infantile Type
Osteopetrosis, Adult Type
Osteopoikilosis
Oto-palato-digital Syndrome, Type I
Oto-palato-digital Syndrome, Type II
Pena-Shokeir Syndrome
Pfeiffer Syndrome
Poland Syndrome
Prader-Willi Syndrome
Progeria
Pseudoachondroplasia
Pyknodysostosis
Roberts Syndrome
Robin Sequence
Robinow Syndrome
Rubinstein-Taybi Syndrome
Saethre-Chotzen Syndrome
Seckel Syndrome
Short Rib-Polydactyly Syndrome, Type I
Short Rib-Polydactyly Syndrome, Type II
Silver-Russell Syndrome
Smith-Lemli-Opitz Syndrome
Sotos Syndrome
Spondyloepimetaphyseal Dysplasia, Irapa Type
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Spondyloepiphyseal Dysplasia Congenita
Spondyloepiphyseal Dysplasia Tarda
Spondylometaphyseal Dysplasia, Kozlowski Type
Stickler Syndrome
Thanatophoric Dysplasia
Thrombocytopenia-Absent Radius Syndrome
Treacher-Collins Syndrome
Tricho-rhino-phalangeal Syndrome, Type I
Tricho-rhino-phalangeal Syndrome, Type II
Turner Syndrome
VATER Association
Williams Syndrome.
Castriota-Scanderbeg, Alessandro
Dallapiccola, Bruno
ISBN | 978-3-540-67997-4 |
---|---|
Artikelnummer | 9783540679974 |
Medientyp | Buch |
Copyrightjahr | 2005 |
Verlag | Springer, Berlin |
Umfang | XIV, 962 Seiten |
Abbildungen | XIV, 962 p. |
Sprache | Englisch |