Rare Genetic Disorders That Affect the Skeleton. Questo articolo non è disponibile.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.

About Henry J. Mankin, MD Dr. Henry J. Mankin was born and raised in Pittsburgh, PA and received his Undergraduate Degree and MD from the University. He and his recently deceased wife, Carole had three children, one of whom, Keith, is a co-author of the book. In 1953, Henry served as a resident at the University of Chicago and then 1955, he became a medical physician in the Navy during the end of the Korean War. He served for two years and then took a residency in Orthopaedics at the Hospital for Joint Disease, completing his training in 1960, at which time he joined the staff at the University of Pittsburgh and served until 1966. He then returned to the Hospital for Joint Disease as Chief of Orthopaedics until 1972. At that point he became Chief of Orthopaedics at the Massachusetts General Hospital and the Edith M. Ashley Professor of Orthopaedics at Harvard Medical School. He retired as an active participant in 2002 but has remained on the faculty and continuing with research and education until the present time. Dr. Mankin served in many capacities in organizations. He was President of the Orthopaedic Research Society, the American Board of Orthopaedic Surgery, the American Orthopaedic Association, Musculoskeletal Tumor Society and has been on the Dean's Visiting Committee at the University of Pittsburgh since 1992. He has served as an honorary member of the Argentine, Canadian, Japanese, Israeli, British, Thai, Australian and New Zealand Orthopaedic Societies and is an honorary member of the British Royal Society of Medicine. Dr. Mankin has had continuous research funding from the National Institute of Health from 1967 to 2002 and has published two books and 700 articles in Journals, many related to biologic research on bone, cartilage structure and function and on connective tissue tumors and some genetic disorders. About Keith P. Mankin, MD Keith P. Mankin, MD is a pediatric orthopaedist in the Raleigh, NC ar