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Achondroplasia
Achondroplasia is a genetic abnormality resulting in short stature and other physical defects. This means that if you suffer from achondroplasia, you may have deformed bones resulting in physical abnormalities. Achondroplasia can result in physical defects such as short arms and legs and an abnormally large head. You may also be unable to move your elbow fully. Sometimes, this disorder is a result of genetics. But most of the cases of achondroplasia are free of any related family history and occur because of a random mutation of the genes. A variety of tests can discover the mutated gene, both inside and outside the womb. Various treatment options, including bone-lengthening procedures and other surgeries. This must-have book guides you through the disorder, including causes, tests and treatment options.
Human Achondroplasia
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;
Cassidy and Allanson's Management of Genetic Syndromes
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 routin...
Achondroplasia
Achondroplasia, one of the most common types of dwarfism, affects the growth of bones, resulting in shorter limbs, a larger head, and a curved spine. This condition can present challenges, both physical and emotional, for those living with it and their families. But with the right information and support, individuals with achondroplasia can lead fulfilling lives. In this comprehensive guidebook, readers will find everything they need to know about achondroplasia, from the genetic and medical aspects of the condition to the latest research and potential future treatments. With chapters covering everything from surgical options and nutritional needs to coping strategies and advocacy efforts, this book provides a valuable resource for anyone impacted by achondroplasia. Whether you are a parent of a child with the condition or an adult living with achondroplasia, this book offers insights, advice, and hope for a brighter future.
Strong and Mighty Max
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.
For the Love of Dachshunds
"Text investigates the conformation, genetics,and breed history of the Dachshund. Includes over 100 full-color photographs"--Provided by publisher.
Ultrasound of Fetal Syndromes
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 yo...
NORD Guide to Rare Disorders
NORD Guide to Rare Disorders is a comprehensive, practical, authoritative guide to the diagnosis and management of more than 800 rare diseases. The diseases are discussed in a uniform, easy-to-follow format--a brief description, signs and symptoms, etiology, related disorders, epidemiology, standard treatment, investigational treatment, resources, and references.The book includes a complete directory of orphan drugs, a full-color atlas of visual diagnostic signs, and a Master Resource List of support groups and helpful organizations. An index of symptoms and key words offers physicians valuable assistance in finding the information they need quickly.
Management of Genetic Syndromes
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 diagn...
