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Cheirolumbar Dysostosis
It was with great pleasure that I accepted Professor Wackenheim's invitation to write the preface of this most interesting monograph. During the international course on neuroradiology in Obernai, organized by Professor Wackenheim in 1978, an entire day was devoted to discussions about various aspects of stenosis of the lumbar vertebral canal. As Professor Wackenheim and his group, in particular Dr. E. Babin, had thorough· ly studied this field, it was an excellent occasion for the exchange of views through personal contact. Their support of basic views such as attributing the cause of stenosis to a developmental disturbance of growth of the neural element - the vertebral arc- and spontaneou...
Syndromes: Rapid Recognition and Perioperative Implications
Essential medical facts on over 2,000 genetic syndromes. Organized alphabetically, this book provides comprehensive medical coverage for each syndrome, from genetic basis to manifestations to related medical considerations.
Multiple Congenital Anomalies
The size of the problem, can be assessed This book is an off-shoot of the computerized from the following. Of 50 children bom, 1 London Dysmorphology Database which is now widely used by many geneticists and will have an easily detectable major malfor mation. Many of these will have a single dysmorphologists. Both the database and this malformation, but in the region of 8 in 1000 book have arisen out of a need to cope with the ever increasing nurober of multiple will have multiple abnormalities. This group will include 50% with chromosomal disorders congenital anomaly syndromes, especially recognizable by performing a karyotype, the details about their features and where infor mation can be ...
Dictionary of Medicine
With over 105,000 medical terms and over one million words, this is the most extensive dictionary of its kind available.
Bone Dysplasias
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.
Rare Genetic Disorders That Affect the Skeleton
Genetic disorders that have an effect on connective tissue and especially skeletal parts are rarely encountered by orthopaedic surgeons. The patients are sometimes mildly altered in function and structure but may also present with some severe alterations which not only cause severe disability and deformity, but also mental retardation and early death. Up to this date, there is limited knowledge as to the genetic errors, the causation of localized soft tissue and skeletal alterations and only very limited information as to possible treatment. The purpose of introducing the data for these 14 diseases is to help caretakers and especially orthopaedic surgeons identify the patients based on their clinical presentations and also perform research to assess the causes of the diseases and possibly develop treatment protocols which may help the patients survive and improve their function.
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...
Jablonski's Dictionary of Syndromes & Eponymic Diseases
Contains definitions of eponymous and noneponymous syndromes and eponymous diseases. Discussions include pathology, metabolism, etiology, inheritance, and special characteristics.
