LEADER 06702nam 22007695 450 001 9910853991103321 005 20240521121324.0 010 $a3-540-95928-9 024 7 $a10.1007/978-3-540-95928-1 035 $a(CKB)3710000000311776 035 $a(EBL)1965485 035 $a(OCoLC)898212041 035 $a(SSID)ssj0001407857 035 $a(PQKBManifestationID)11727539 035 $a(PQKBTitleCode)TC0001407857 035 $a(PQKBWorkID)11411601 035 $a(PQKB)11292896 035 $a(MiAaPQ)EBC1965485 035 $a(DE-He213)978-3-540-95928-1 035 $a(PPN)183146700 035 $a(EXLCZ)993710000000311776 100 $a20141205d2014 u| 0 101 0 $aeng 135 $aur|n|---||||| 181 $ctxt 182 $cc 183 $acr 200 10$aLimb Malformations$b[electronic resource] $eAn Atlas of Genetic Disorders of Limb Development /$fby Stefan Mundlos, Denise Horn 210 $cSpringer Berlin Heidelberg$d2014 210 1$aBerlin, Heidelberg :$cSpringer Berlin Heidelberg :$cImprint: Springer,$d2014. 215 $a1 online resource (274 p.) 300 $aDescription based upon print version of record. 311 $a3-540-95927-0 320 $aIncludes bibliographical references at the end of each chapters and index. 327 $a""Foreword""; ""Preface""; ""Acknowledgements""; ""Table of Contents""; ""I Introduction""; ""1 Development of the Limbs""; ""2 Clinical Assessment and Anthropometry of the Limbs""; ""3 Radiology of the Limb ""; ""4 Surgical Management Principles for Congenital Upper Limb Malformations""; ""II Disorders: Polydactyly Isolated""; ""5 Preaxial Polydactyly""; ""6 Postaxial Polydactyly ""; ""7 Greig Cephalopolysyndactyly Syndrome ""; ""8 Triphalangeal Thumb-Polydactyly Syndrome ""; ""8 Synpolydactyly ""; ""10 Laurina???Sandrow Syndrome""; ""III Disorders: Polydactyly Associated"" 327 $a""11 Ellisa???Van Creveld Syndrome""""12 Short Rib-Polydactyly Syndromes""; ""13 Bardeta???Biedl Syndrome""; ""14 Meckel Syndrome""; ""15 Carpenter Syndrome""; ""16 Acrocallosal Syndrome""; ""17 Townesa???Brocks Syndrome""; ""18 Pallistera???Hall Syndrome""; ""IV Disorders: Syndactyly Isolated""; ""19 Syndactyly Type Lueken""; ""20 Metacarpal 4a???5 Fusion Syndrome""; ""21 Syndactyly Type Haas""; ""22 Acropectorovertebral Dysplasia""; ""V Disorders: Syndactyly Associated""; ""23 Apert Syndrome""; ""24 Craniosynostosis, Philadelphia Type""; ""25 Fraser Syndrome""; ""26 Cenania???Lenz Syndrome"" 327 $a""27 Oculodentodigital Dysplasia""""28 Oro-Facial-Digital Syndrome, Type 1""; ""29 Ectodermal Dysplasiaa???Syndactyly Syndrome""; ""30 Smitha???Lemlia???Opitz Syndrome""; ""VI Disorders: Brachydactyly Isolated""; ""31 Brachydactyly Type A1""; ""32 Brachydactyly Type A2""; ""33 Brachydactyly Type B1""; ""34 Brachydactyly Type B2""; ""35 Brachydactyly Type C""; ""36 Brachydactyly Type E; Brachydactyly Type D""; ""37 Cooks Syndrome""; ""VII Disorders: Brachydactyly Associated""; ""38 Adamsa???Oliver Syndrome""; ""39 Hand-Foot-Genital Syndrome""; ""40 Catela???Manzke Syndrome"" 327 $a""41 Feingold Syndrome""""42 Albright Hereditary Osteodystrophy""; ""43 Brachydactyly-Hypertension Syndrome""; ""44 Rubinsteina???Taybi Syndrome""; ""45 Cranioectodermal Dysplasia""; ""46 Temtamy Preaxial Brachydactyly Syndrome""; ""47 Fibrodysplasia Ossificans Progressiva""; ""48 Enchondromatosis, Ollier Type""; ""49 Trichorhinophalangeal Syndrome""; ""50 Acrodysostosis, With or Without Hormone Resistance""; ""51 Acromicric Dysplasia""; ""VIII Abnormal Joint Formation/Synostosis""; ""52 Symphalangism; Multiple Synostoses Syndrome; Tarsal/Carpal Coalition Syndrome 327 $aTeunissena???Cremers Syndrome""""53 Antleya???Bixler Syndrome With/Without Genital Anomalies or Disordered Steroidogenesis""; ""54 Liebenberg Syndrome""; ""55 Naila???Patella Syndrome""; ""56 Small Patella Syndrome""; ""57 Larsen Syndrome""; ""IX Contracture Deformities""; ""58 Amyoplasia Congenita""; ""59 Freemana???Sheldon Syndrome""; ""60 Multiple Pterygium Syndrome, Escobar Variant""; ""61 Beals Syndrome""; ""X Reduction Anomalies: Upper and Lower Limbs""; ""62 Acheiropodia""; ""63 Al-Awadi/Raasa???Rothschild/Schinzel Phocomelia Syndrome""; ""64 Tetra-Amelia, Peromelia"" 327 $a""65 Hanhart Syndrome"" 330 $aOne aim of this atlas is to present a comprehensive overview of limb malformation phenotypes in order to provide the clinician with a tool that facilitates the diagnostic process. With the enormous advances in molecular and developmental biology, the genetic basis of many limb malformations and their relationship to each other has been elucidated. Thus, a further aim of this atlas is to provide the reader with a basic understanding of the molecular pathology of these conditions. The book is extensively illustrated with clinical photos and radiographs of conditions or groups of related conditions. In addition, a concise description of the conditions is provided featuring structured information on ?Synonyms?, ?Major clinical findings?, ?Genetic transmission?, ?Differential diagnosis?, ?Molecular Pathology?, and references to Mendelian Inheritance in Man (OMIM). The book is designed for medical geneticists, radiologists, pediatricians, hand surgeons, orthopedic surgeons, as well as medical personnel and other physicians involved in the evaluation and treatment of patients with abnormal limbs. 606 $aHuman genetics 606 $aOrthopedic surgery 606 $aPediatrics 606 $aRadiology, Medical 606 $aHuman Genetics$3http://scigraph.springernature.com/things/product-market-codes/B12008 606 $aSurgical Orthopedics$3http://scigraph.springernature.com/things/product-market-codes/H45027 606 $aPediatrics$3http://scigraph.springernature.com/things/product-market-codes/H49006 606 $aImaging / Radiology$3http://scigraph.springernature.com/things/product-market-codes/H29005 615 0$aHuman genetics. 615 0$aOrthopedic surgery. 615 0$aPediatrics. 615 0$aRadiology, Medical. 615 14$aHuman Genetics. 615 24$aSurgical Orthopedics. 615 24$aPediatrics. 615 24$aImaging / Radiology. 676 $a599935 676 $a610 676 $a611.01816 676 $a616.0757 700 $aMundlos$b Stefan$4aut$4http://id.loc.gov/vocabulary/relators/aut$01737204 702 $aHorn$b Denise$4aut$4http://id.loc.gov/vocabulary/relators/aut 906 $aBOOK 912 $a9910853991103321 996 $aLimb Malformations$94158398 997 $aUNINA