Download or read book Heritable disorders of connective tissue and skeletal dysplasias written by and published by . This book was released on 1989 with total page 147 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Download or read book Heritable Disorders of Connective Tissue and Skeletal Dysplasias written by March of Dimes Birth Defects Foundation and published by . This book was released on 1989 with total page 147 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Download or read book Connective Tissue and Its Heritable Disorders written by Peter M. Royce and published by John Wiley & Sons. This book was released on 2003-04-14 with total page 1201 pages. Available in PDF, EPUB and Kindle. Book excerpt: The Second Edition of Connective Tissue and Its Heritable Disorders: Molecular, Genetic, and Medical Aspects is the definitive reference text in its field, with over 40% more pages on the nature, diagnosis, and treatment of disease than its predecessor. Collecting new research on disorders detailed in the first edition as well as on those previously excluded, editors Peter Royce and Beat Steinmann provide the most up-to-date clinical and scientific information for medical specialists treating affected individuals. Features of this revised and updated volume include detailed reviews of the clinical diagnosis, mode of inheritance, risk of recurrence, and prenatal diagnosis of each inherited connective tissue disorder; a thorough description of the morphology of connective tissues; a completely updated and revised section on the biology of the extracellular matrix; and the addition of syndromes such as craniosyntosis, and disorders of sulfate metabolism.
Download or read book Heritable Disorders of Connective Tissue written by Victor Almon McKusick and published by . This book was released on 1972 with total page 812 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Download or read book Inherited Disorders of the Skeleton written by Peter Beighton and published by . This book was released on 1988 with total page 508 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Download or read book Molecular Genetics and Pathogenesis of Ehlers Danlos Syndrome and Related Connective Tissue Disorders written by Marina Colombi and published by MDPI. This book was released on 2020-12-14 with total page 218 pages. Available in PDF, EPUB and Kindle. Book excerpt: Ehlers–Danlos syndromes (EDS) are a group of heritable connective tissue disorders (HCTDs) characterized by a variable degree of skin hyperextensibility, joint hypermobility and tissue fragility. The current EDS classification distinguishes 13 subtypes and 19 different causal genes mainly involved in collagen and extracellular matrix synthesis and maintenance. EDS need to be differentiated from other HCTDs with a variable clinical overlap, including Marfan syndrome and related disorders, some types of skeletal dysplasia and cutis laxa. The clinical recognition of EDS is not always straightforward, and, for a definite diagnosis, molecular testing can be of great assistance, especially in patients with an uncertain phenotype. Currently, the major challenging task in EDS is to unravel the molecular basis of the hypermobile EDS that is the most frequent form, and for which the diagnosis is only clinical in the absence of any definite laboratory test. This EDS subtype, as well as other EDS-reminiscent phenotypes, are currently investigated worldwide to unravel the primary genetic defect and related pathomechanisms. The research articles, case report, and reviews published in the Special Issue entitled “Molecular Genetics and Pathogenesis of Ehlers–Danlos Syndrome and Related Connective Tissue Disorders” focus on different clinical, genetic and molecular aspects of several EDS subtypes and some related disorders, offering novel findings and future research and nosological perspectives.
Download or read book Selected Heritable Disorders of Connective Tissue and Disability written by National Academies of Sciences, Engineering, and Medicine and published by . This book was released on 2023-01-08 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: Heritable disorders of connective tissue (HDCTs) are a diverse group of inherited genetic disorders and subtypes. Because connective tissue is found throughout the body, the impairments associated with HDCTs manifest in multiple body systems and may change or vary in severity throughout an affected individual's lifetime. In some cases, these impairments may be severe enough to qualify an eligible child or adult for monetary benefits through the U.S. Social Security Administration's (SSA's) Social Security Disability Insurance or Supplemental Security Income program. SSA asked the National Academies of Sciences, Engineering, and Medicine to convene an expert committee that would provide current information regarding the diagnosis, treatment, and prognosis of selected HDCTs, including Marfan syndrome and the Ehlers-Danlos syndromes, and the effect of the disorders and their treatment on functioning. The resulting report, Selected Heritable Disorders of Connective Tissue and Disability, presents the committee's findings and conclusions.
Download or read book Connective Tissue and Its Heritable Disorders written by Peter M. Royce and published by . This book was released on 1993 with total page 720 pages. Available in PDF, EPUB and Kindle. Book excerpt: Synthesizes a wealth of new information in the areas of biochemistry, genetics and molecular biology. Contains clear,well-organized material regarding advances in the study of heritable disorders of connective tissue, describing breakthroughs in the last ten years which, until now, have not been published.
Download or read book Bone Dysplasias written by Jürgen W. Spranger and published by Oxford University Press, USA. This book was released on 2018 with total page 929 pages. Available in PDF, EPUB and Kindle. Book excerpt: The definitive guide to genetic bone disorders, now revised and expanded with glossy photographs and radiographs "Brilliantly written and produced and deserves to be on the shelves of all pediatric radiologists. It should also be available to geneticists, counselors, and pediatricians." --Radiology This updated and expanded fourth edition of Bone Dysplasias presents age-related radiographs, photographs and clinical guidelines for more than 250 rare constitutional skeletal diseases. Focusing on diagnostically essential imaging and clinical features, each chapter is supplemented with prognostic and therapeutic information, a guide to differential diagnoses, and a short list of the most relevant publications. Organized in accordance with the most recent International Nosology and Classification of Genetic Skeletal Disorders, this new Bone Dysplasias distills the insights of a small, world-class author team on diagnosis and clinical approaches to this most difficult class of disorders.
Download or read book Heritable Disorders of Connective Tissue written by Victor A. McKusick and published by . This book was released on 2003-01-01 with total page 534 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Download or read book Molecular Genetics and Pathogenesis of Ehlers Danlos Syndrome and Related Connective Tissue Disorders written by Marina Colombi and published by . This book was released on 2020 with total page 218 pages. Available in PDF, EPUB and Kindle. Book excerpt: Ehlers-Danlos syndromes (EDS) are a group of heritable connective tissue disorders (HCTDs) characterized by a variable degree of skin hyperextensibility, joint hypermobility and tissue fragility. The current EDS classification distinguishes 13 subtypes and 19 different causal genes mainly involved in collagen and extracellular matrix synthesis and maintenance. EDS need to be differentiated from other HCTDs with a variable clinical overlap, including Marfan syndrome and related disorders, some types of skeletal dysplasia and cutis laxa. The clinical recognition of EDS is not always straightforward, and, for a definite diagnosis, molecular testing can be of great assistance, especially in patients with an uncertain phenotype. Currently, the major challenging task in EDS is to unravel the molecular basis of the hypermobile EDS that is the most frequent form, and for which the diagnosis is only clinical in the absence of any definite laboratory test. This EDS subtype, as well as other EDS-reminiscent phenotypes, are currently investigated worldwide to unravel the primary genetic defect and related pathomechanisms. The research articles, case report, and reviews published in the Special Issue entitled “Molecular Genetics and Pathogenesis of Ehlers-Danlos Syndrome and Related Connective Tissue Disorders” focus on different clinical, genetic and molecular aspects of several EDS subtypes and some related disorders, offering novel findings and future research and nosological perspectives.
Download or read book Taybi and Lachman s Radiology of Syndromes Metabolic Disorders and Skeletal Dysplasias written by Ralph S. Lachman and published by Mosby. This book was released on 2007 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: "Revised to reflect the latest advances, the 5th edition of this book: brings you new and expanded coverage of CT, MRI, and ultrasonographic manifestations; provides several illustrative examples of the evolution of a syndrome from infancy to adult life; includes more than 100 new skeletal dysplasias, covering everything from their frequency and clinical and radiological manifestations ... to modes of inheritance and differential diagnosis; presents genetic information on syndromes and disorders, while also covering a number of non-genetic entities; features an expanded Chromosome disorders section that includes guidance on when to test for these conditions; includes a section on Gamuts that helps you look up conditions based on individual traits; and offers an updated Brachydactyly section for the latest guidance in addressing these isolated disorders." "Short, concise descriptions of entities help you glean the most information in the least time, and an alphabetical organization expedites access to the specific information you need for common and uncommon conditions."--Résumé de l'éditeur.
Download or read book McKusick s Heritable Disorders of Connective Tissue written by Peter Beighton and published by . This book was released on 1993 with total page 784 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Download or read book Color Atlas of Inherited Connective Tissue Disorders written by F. Michael Pope and published by Mosby. This book was released on 1995 with total page 166 pages. Available in PDF, EPUB and Kindle. Book excerpt: Presenting a collection of clinical and biological material including clinical photographs and X-rays, this atlas covers the history, genetics, essential physical signs and classification of inherited connective tissue disorders.
Download or read book Pathology of Bone and Joint Disorders Print and Online Bundle written by Edward F. McCarthy and published by Cambridge University Press. This book was released on 2014-11-20 with total page 385 pages. Available in PDF, EPUB and Kindle. Book excerpt: Fully updated new edition covering all aspects of bone and joint diseases in one easily readable volume. Color illustrations throughout.
Download or read book The Ehlers Danlos Syndrome written by Peter Beighton and published by . This book was released on 1970 with total page 216 pages. Available in PDF, EPUB and Kindle. Book excerpt: Ehlers-Danlos Syndrom.
Download or read book Progress in Heritable Soft Connective Tissue Diseases written by Jaroslava Halper and published by Springer. This book was released on 2016-09-18 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: This volume is a reference handbook focusing on diseases like Marfan syndrome, Ehlers-Danlos syndrome, Loeys-Dietz syndrome and other heritable soft connective tissue diseases. The book presents detailed information for both basic scientists and for clinicians seeing patients. It is also a stepping stone for new investigations and studies that goes beyond the facts about the composition and biochemistry of the connective tissue and extracellular matrix, as the authors connect individual components to specific aspects of various soft tissue disorders and to the actual or potential treatment of them. Progress in Heritable Soft Connective Tissue Diseases features very prominent physicians and scientists as contributors who bring their most recent discoveries to the benefit of readers. Their expertise will help clinicians with proper diagnosis of sometimes elusive and uncommon heritable diseases of soft connective tissues. This book also offers an update on the pathophysiology of these diseases, including an emphasis on unifying aspects such as connections between embryonic development of the different types of connective tissues and systems, and the role of TGF-beta in development and physiology of soft tissues. This new set of data explains, at least in part, why many of these disorders are interconnected, though the primary pathophysiological events, such as gene mutations, may be different for each disorder.
