Title Abnormal skeletal phenotypes : from simple signs to complex diagnoses / Alessandro Castriota-Scanderbeg, Bruno Dallapicola

Published Berlin ; New York : Springer, ©2005

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Description 1 online resource (xiv, 962 pages) : illustrations (some color) Contents I -- Skull -- 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 -- Multiple Epiphyseal 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 Summary 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 Bibliography Includes bibliographical references and index Notes Print version record In Springer e-books Subject Skeleton. Abnormalities, Human. Phenotype. Bone and Bones -- abnormalities Skeleton Abnormalities, Multiple -- diagnosis Abnormalities, Multiple -- diagnostic imaging Bone Diseases -- genetics Bone and Bones -- diagnostic imaging Phenotype SCIENCE -- Life Sciences -- Human Anatomy & Physiology. MEDICAL -- Anatomy. Phenotype Abnormalities, Human Skeleton Form Electronic book Author Dallapiccola, Bruno ISBN 9783540303619 3540303618 3540679979 9783540679974 9786611086688 6611086684

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