The Ehlers Danlos Syndrome

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 Ehlers-Danlos Syndrome: A Multidisciplinary Approach written by J.W.G. Jacobs and published by IOS Press. This book was released on 2018-08-14 with total page 370 pages. Available in PDF, EPUB and Kindle. Book excerpt: Generalized hypermobility has been known since ancient times, and a clinical description of Ehlers-Danlos syndrome (EDS) is said to have first been recorded by Hippocrates in 400 BC. Hypermobility syndromes occur frequently, but the wide spectrum of possible symptoms, coupled with a relative lack of awareness and recognition, are the reason that they are frequently not recognized, or remain undiagnosed. This book is an international, multidisciplinary guide to hypermobility syndromes, and EDS in particular. It aims to create better awareness of hypermobility syndromes among health professionals, including medical specialists, and to be a guide to the management of such syndromes for patients and practitioners. It is intended for use in daily clinical practice rather than as a reference book for research or the latest developments, and has been written to be understandable for any healthcare worker or educated patient without compromise to the scientific content. The book is organized as follows: chapters on classifications and genetics are followed by chapters on individual types, organ (system) manifestations and complications, and finally ethics and therapeutic strategies, with an appendix on surgery and the precautions which should attend it. A special effort has been made to take account of the perspective of the patient; two of the editors have EDS. The book will be of interest to patients with hypermobility syndromes and their families, as well as to all those healthcare practitioners who may encounter such syndromes in the course of their work.

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 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 Syndromes of the Head and Neck written by Robert J. Gorlin and published by Oxford University Press. This book was released on 2001-09-27 with total page 1332 pages. Available in PDF, EPUB and Kindle. Book excerpt: This classic text, one of the true anchors of our clinical genetics publishing program, covers over 700 different genetic syndromes involving the head and neck, and it has established itself as the definitive, comprehensive work on the subject. The discussion covers the phenotype spectrum, epidemiology, mode of inheritance, pathogenesis, and clinical profile of each condition, all of which is accompanied by a wealth of illustrations. The authors are recognized leaders in the field, and their vast knowledge and strong clinical judgment will help readers make sense of this complex and burgeoning field. Dr. Gorlin retires as editor in this edition and co-editor Raoul Hennekam takes over. Dr. Hennekam is regarded as one of the top dysmorphologists--and indeed one of the top clinical geneticists--in the world. Judith Allanson is new to the book but is a veteran OUP author and a widely respected geneticist, and Ian Krantz at Penn is a rising star in the field. Dr. Gorlin's name has always been closely associated with the book, and it has now become part of the title. As in all fields of genetics, there has been an explosion in the genetics of dysmorphology syndromes, and the author has undertaken a complete updating of all chapters in light of the discoveries of the Human Genome Project and other ongoing advances, with some chapters requiring complete rewriting. Additional material has been added both in terms of new syndromes and in updating information on existing syndromes. The book will appeal to clinical geneticists, pediatricians, neurologists, head and neck surgeons, otolarynologists, and dentists. The 4th edition, which published in 2001, has sold 2,600 copies.

Download or read book Ehlers-Danlos Syndrome: New Insights for the Healthcare Professional: 2013 Edition written by and published by ScholarlyEditions. This book was released on 2013-07-22 with total page 38 pages. Available in PDF, EPUB and Kindle. Book excerpt: Ehlers-Danlos Syndrome: New Insights for the Healthcare Professional: 2013 Edition is a ScholarlyPaper™ that delivers timely, authoritative, and intensively focused information about Additional Research in a compact format. The editors have built Ehlers-Danlos Syndrome: New Insights for the Healthcare Professional: 2013 Edition on the vast information databases of ScholarlyNews.™ You can expect the information about Additional Research in this book to be deeper than what you can access anywhere else, as well as consistently reliable, authoritative, informed, and relevant. The content of Ehlers-Danlos Syndrome: New Insights for the Healthcare Professional: 2013 Edition has been produced by the world’s leading scientists, engineers, analysts, research institutions, and companies. All of the content is from peer-reviewed sources, and all of it is written, assembled, and edited by the editors at ScholarlyEditions™ and available exclusively from us. You now have a source you can cite with authority, confidence, and credibility. More information is available at http://www.ScholarlyEditions.com/.

Download or read book A Complete Pedagogy of “Ehlers-Danlos Syndrome.” written by Dr. Hakim. Saboowala. and published by Dr.Hakim Saboowala. This book was released on 2022-08-22 with total page 87 pages. Available in PDF, EPUB and Kindle. Book excerpt: What is“Ehlers-Danlos Syndrome.?" A Complete Pedagogy. Ehlers-Danlos syndrome (EDS) is a genetic disorder affecting collagen formation and function. It affects virtually every organ system, which can result in significant morbidity and mortality. Proper diagnosis of EDS is essential to improving the overall health and well-being of affected patients as well as mitigating the complications which include: § Arterial rupture, § Organ rupture, § Joint dislocation, § Chronic pain, and § Fatigue, among many others. Thus, I have endeavoured in this E-Booklet to outline the background, presentation, evaluation, and management of Ehlers-Danlos syndrome and its complications and to highlight the role of an interprofessional team in ensuring the best patient outcomes along with plenty of ILLUSTRATIONS for better understanding. …Dr. H. K. Saboowala. M.B.(Bom) .M.R.S.H.(London)