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Author: Benedetto Nicoletti Publisher: Springer Science & Business Media ISBN: 1468487124 Category : Medical Languages : en Pages : 471
Book Description
Proceedings of the first international symposium held in Rome, Nov. 1986, study the problems of shortness of stature and attempt to find answers to the life-threatening and disabling impairments that affect achondroplasts. Contributions address genetics, ultrastructure, and cartilage histochemistry;
Author: Benedetto Nicoletti Publisher: Springer Science & Business Media ISBN: 1468487124 Category : Medical Languages : en Pages : 471
Book Description
Proceedings of the first international symposium held in Rome, Nov. 1986, study the problems of shortness of stature and attempt to find answers to the life-threatening and disabling impairments that affect achondroplasts. Contributions address genetics, ultrastructure, and cartilage histochemistry;
Author: John C. Carey Publisher: John Wiley & Sons ISBN: 1119432677 Category : Science Languages : en Pages : 1104
Book Description
MANAGEMENT OF GENETIC SYNDROMES THE MOST RECENT UPDATE TO ONE OF THE MOST ESSENTIAL REFERENCES ON MEDICAL GENETICS Cassidy and Allanson’s Management of Genetic Syndromes, Fourth Edition is the latest version of a classic text in medical genetics. With newly covered disorders and cutting-edge, up-to-date information, this resource remains the most crucial reference on the management of genetic syndromes in the field of medical genetics for students, clinicians, caregivers, and researchers. The fourth edition includes current information on the identification of genetic syndromes (including newly developed diagnostic criteria), the genetic basis (including diagnostic testing), and the routine care and management for more than 60 genetic disorders. Written by experts, each chapter includes sections on: Incidence Diagnostic criteria Etiology, pathogenesis and genetics Diagnostic testing Differential diagnosis Manifestations and Management (by system) The book focuses on genetic syndromes, primarily those involving developmental disabilities and congenital defects. The chapter sections dealing with Manifestations and Management represents the centerpiece of each entry and is unmatched by other genetic syndrome references. Management of Genetic Syndromes is perfect for medical geneticists, genetic counselors, primary care physicians and all healthcare professionals seeking to stay current on the routine care and management of individuals with genetic disorders.
Author: Kristina Gray Publisher: Troubador Publishing Ltd ISBN: 1789013917 Category : Juvenile Fiction Languages : en Pages : 40
Book Description
Strong and Mighty Max was written by a mother of a child who was born with achondroplasia. Achondroplasia is a rare condition affecting 1 in 25.000 births. Children born with the condition have shorter limbs and slightly larger head than their peers, and have normal intelligence. This beautifully illustrated book encourages children to celebrate that each one of us in unique and different in some way. The revised edition has guided educational activities for primary aged children. To discuss differences, disabilities and the importance of kindness. The new character Katy challenges the reader to think about the importance of education to understand differences.
Author: Robert Hutchinson Publisher: Browntrout Publishers ISBN: 1563139030 Category : Dachshunds Languages : en Pages : 116
Book Description
"Text investigates the conformation, genetics,and breed history of the Dachshund. Includes over 100 full-color photographs"--Provided by publisher.
Author: Suzanne B. Cassidy Publisher: John Wiley & Sons ISBN: 1118210670 Category : Medical Languages : en Pages : 1678
Book Description
The bestselling guide to the medical management of common genetic syndromes —now fully revised and expanded A review in the American Journal of Medical Genetics heralded the first edition of Management of Genetic Syndromes as an "unparalleled collection of knowledge." Since publication of the first edition, improvements in the molecular diagnostic testing of genetic conditions have greatly facilitated the identification of affected individuals. This thorough revision of the critically acclaimed bestseller offers original insights into the medical management of sixty common genetic syndromes seen in children and adults, and incorporates new research findings and the latest advances in diagnosis and treatment of these disorders. Expanded to cover five new syndromes, this comprehensive new edition also features updates of chapters from the previous editions. Each chapter is written by an expert with extensive direct professional experience with that disorder and incorporates thoroughly updated material on new genetic findings, consensus diagnostic criteria, and management strategies. Edited by two of the field's most highly esteemed experts, this landmark volume provides: A precise reference of the physical manifestations of common genetic syndromes, clearly written for professionals and families Extensive updates, particularly in sections on diagnostic criteria and diagnostic testing, pathogenesis, and management A tried-and-tested, user-friendly format, with each chapter including information on incidence, etiology and pathogenesis, diagnostic criteria and testing, and differential diagnosis Up-to-date and well-written summaries of the manifestations followed by comprehensive management guidelines, with specific advice on evaluation and treatment for each system affected, including references to original studies and reviews A list of family support organizations and resources for professionals and families Management of Genetic Syndromes, Third Edition is a premier source to guide family physicians, pediatricians, internists, medical geneticists, and genetic counselors in the clinical evaluation and treatment of syndromes. It is also the reference of choice for ancillary health professionals, educators, and families of affected individuals looking to understand appropriate guidelines for the management of these disorders. From a review of the first edition: "An unparalleled collection of knowledge . . . unique, offering a gold mine of information." —American Journal of Medical Genetics
Author: Beryl R. Benacerraf Publisher: Elsevier Health Sciences ISBN: 0443066418 Category : Medical Languages : en Pages : 673
Book Description
This is the only book of its kind in prenatal diagnosis that details the most common sonographically detectable fetal syndromes. It has an easy-to-follow approach of using lists and patterns of malformations to generate a differential diagnosis of the possible syndrome involved. The reader is then led to the more detailed description of each syndrome to determine the exact final diagnosis. The new edition incorporates 3D ultrasound throughout the book, as well as 20 syndromes not previously covered. Cross-references sonographic fetal malformations with various syndromes to use patterns of malformation to arrive at the correct diagnosis. Shows the specific features of each syndrome to help you determine how detectable the syndrome is or how likely the fetus is to have the syndrome. Offers up-to-date information on how to manage borderline sonographic findings. Helps you to not only identify what syndrome a given set of malformations is likely to represent, but also understand the clinical implications of that syndrome. Includes more than 500 new images, many of which are 3D ultrasound images. Covers 20 new syndromes, including Perlman Syndrome, Cerebro-Costo-Mandibular Syndrome, Van der Woude Syndrome, Septo-Optic Dysplasia, Saethre-Chotzen Syndrome, Congenital Adrenal Hyperplasia, Congenital High Airway Obstruction Syndrome (CHAOS), Cloacal Extrophy Sequence, Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome, Opitz Syndrome, and DiGeorge Syndrome. Takes full advantage of a new full color design to make reference even easier. Presents ultrasound video ciips as they would appear in practice on the bonus DVD.
Author: Amy Roloff Publisher: Simon and Schuster ISBN: 1948080982 Category : Biography & Autobiography Languages : en Pages : 212
Book Description
From the star of TLC’s hit reality show Little People BIG World comes a revelatory memoir that will inspire those who have long followed the Roloff’s and newcomers alike. “A Little Me by Amy Roloff is a feel-good, inspirational memoir about a remarkable woman who addresses challenges head-on with a positive outlook and deep faith.” – New York Journal of Books Whatever package you come in, life isn’t easier or harder than another’s because you are different physically. There may be more challenges, but still, everyone has challenges. “God doesn’t make mistakes.” For Amy Roloff, star of TLC’s hit reality show Little People, BIG World, her father’s words would repeatedly serve as an anchor, reminding her of her inherent worth and purpose, whenever feelings of insecurity and inadequacy surfaced and threatened to overwhelm her. In A Little Me, Amy shares what it was like growing up with achondroplasia dwarfism, how she struggled to overcome obstacles both physical and emotional—navigating the average-size world as a little person, dealing with a serious illness as a young girl, bullying, and issues of body image and unachievable beauty ideals—while learning, as we all must, to accept herself for who she is. Finally allowing herself to be vulnerable enough to open up to others, she learned that it’s worth risking possible rejection for a chance at genuine relationships. Amy’s memoir is an inspiring and at times heart-wrenching account of resilience and the strength of the human spirit to overcome seemingly insurmountable obstacles.
Author: Jürgen W. Spranger Publisher: Oxford University Press, USA ISBN: 0190626658 Category : Medical Languages : en Pages : 929
Book Description
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.
Author: Veronique Dasen Publisher: Oxford University Press ISBN: 0199680868 Category : History Languages : en Pages : 468
Book Description
This book examines dwarfs in myth and everyday life in ancient Egypt and Greece. The spectacular forms of dwarfism were always a focus of interest, and it is the most depicted disorder in antiquity. Dasen brings together a whole range of mostly unpublished or little-known iconographic, epigraphic, literary, and anthropological evidence.
Author: Benedetto Nicoletti
Author: Benedetto Nicoletti
Author: John C. Carey
Author: Kristina Gray
Author: Murk Jansen
Author: Robert Hutchinson
Author: Suzanne B. Cassidy
Author: Beryl R. Benacerraf
Author: Amy Roloff
Author: Jürgen W. Spranger
Author: Veronique Dasen