000 06600nam a22005535i 4500
001 978-3-540-30361-9
003 DE-He213
005 20161121230601.0
007 cr nn 008mamaa
008 100301s2005 gw | s |||| 0|eng d
020 _a9783540303619
_9978-3-540-30361-9
024 7 _a10.1007/3-540-30361-8
_2doi
050 4 _aR895-920
072 7 _aMMPH
_2bicssc
072 7 _aMMP
_2bicssc
072 7 _aMED008000
_2bisacsh
082 0 4 _a616.0757
_223
100 1 _aCastriota-Scanderbeg, Alessandro.
_eauthor.
245 1 0 _aAbnormal Skeletal Phenotypes
_h[electronic resource] :
_bFrom Simple Signs to Complex Diagnoses /
_cby Alessandro Castriota-Scanderbeg, Bruno Dallapiccola.
264 1 _aBerlin, Heidelberg :
_bSpringer Berlin Heidelberg,
_c2005.
300 _aXIV, 962 p.
_bonline resource.
336 _atext
_btxt
_2rdacontent
337 _acomputer
_bc
_2rdamedia
338 _aonline resource
_bcr
_2rdacarrier
347 _atext file
_bPDF
_2rda
505 0 _aI -- 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.
520 _aWhen 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.
650 0 _aMedicine.
650 0 _aHuman genetics.
650 0 _aHuman anatomy.
650 0 _aRadiology.
650 0 _aInternal medicine.
650 0 _aOrthopedics.
650 0 _aPediatrics.
650 1 4 _aMedicine & Public Health.
650 2 4 _aImaging / Radiology.
650 2 4 _aInternal Medicine.
650 2 4 _aAnatomy.
650 2 4 _aHuman Genetics.
650 2 4 _aPediatrics.
650 2 4 _aOrthopedics.
700 1 _aDallapiccola, Bruno.
_eauthor.
710 2 _aSpringerLink (Online service)
773 0 _tSpringer eBooks
776 0 8 _iPrinted edition:
_z9783540679974
856 4 0 _uhttp://dx.doi.org/10.1007/3-540-30361-8
912 _aZDB-2-SME
950 _aMedicine (Springer-11650)
999 _c500919
_d500919