Limb Malformations [[electronic resource] ] : An Atlas of Genetic Disorders of Limb Development / / by Stefan Mundlos, Denise Horn

• Record Nr.: UNINA9910845499603321
• Autore: Mundlos Stefan
• Pubbl/distr/stampa: Berlin, Heidelberg : , : Springer Berlin Heidelberg : , : Imprint : Springer, , 2014
• ISBN: 3-540-95928-9
• Descrizione fisica: 1 online resource (274 p.)
• Disciplina: 599935; 610; 611.01816; 616.0757
• Soggetti: Human genetics; Orthopedic surgery; Pediatrics; Radiology, Medical; Human Genetics; Surgical Orthopedics; Imaging / Radiology
• Lingua di pubblicazione: Inglese
• Formato: Materiale a stampa
• Livello bibliografico: Monografia
• Note generali: Description based upon print version of record.
• Nota di bibliografia: Includes bibliographical references at the end of each chapters and index.
• Nota di contenuto: ""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 Laurinâ€?Sandrow Syndrome""; ""III Disorders: Polydactyly Associated""; ""11 Ellisâ€?Van Creveld Syndrome""""12 Short Rib-Polydactyly Syndromes""; ""13 Bardetâ€?Biedl Syndrome""; ""14 Meckel Syndrome""; ""15 Carpenter Syndrome""; ""16 Acrocallosal Syndrome""; ""17 Townesâ; €?Brocks Syndrome""; ""18 Pallisterâ€?Hall Syndrome""; ""IV Disorders: Syndactyly Isolated""; ""19 Syndactyly Type Lueken""; ""20 Metacarpal 4â€?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 Cenaniâ€?Lenz Syndrome""; ""27 Oculodentodigital Dysplasia""""28 Oro-Facial-Digital Syndrome, Type 1""; ""29 Ectodermal Dysplasiaâ€?Syndactyly Syndrome""; ""30 Smithâ€?Lemliâ€?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 Adamsâ€?Oliver Syndrome""; ""39 Hand-Foot-Genital Syndrome""; ""40 Catelâ€?Manzke Syndrome""; ""41 Feingold Syndrome""""42 Albright Hereditary Osteodystrophy""; ""43 Brachydactyly-Hypertension Syndrome""; ""44 Rubinsteinâ€?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; Teunissenâ€?Cremers Syndrome""""53 Antleyâ€?Bixler Syndrome With/Without Genital Anomalies or Disordered Steroidogenesis""; ""54 Liebenberg Syndrome""; ""55 Nailâ€?Patella Syndrome""; ""56 Small Patella Syndrome""; ""57 Larsen Syndrome""; ""IX Contracture Deformities""; ""58 Amyoplasia Congenita""; ""59 Freemanâ€?Sheldon Syndrome""; ""60 Multiple Pterygium Syndrome, Escobar Variant""; ""61 Beals Syndrome""; ""X Reduction Anomalies: Upper and Lower Limbs""; ""62 Acheiropodia""; ""63 Al-Awadi/Raasâ€?Rothschild/Schinzel Phocomelia Syndrome""; ""64 Tetra-Amelia, Peromelia""; ""65 Hanhart Syndrome""
• Sommario/riassunto: One 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.