The Genetics of Hereditary Multiple Exostoses
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چکیده
Sandra A. Darilek, MS and Jacqueline T. Hecht, Ph.D. It is suggested if you do not have a back round in genetic to read the link to The Genetics of Multiple Hereditary Exostoses A Simplified Explanation Wim Wuyts, Ph.D. Multiple Hereditary Exostoses ‐ General aspects Introduction Hereditary multiple exostosis (HME) is a skeletal disorder characterized by the presence of numerous bony outgrowths (osteochondromas or exostoses) that develop next to the growth plates of all the long bones (Solomon 1963). The most striking clinical feature of HME is the numerous cartilage-capped exostoses, which are associated with the entire skeleton. Skeletal surveys suggest that a solitary exostosis can be found in 1-2% of the general population (Mirra 1989). A diagnosis of HME is made in individuals where the presence of multiple exostoses has been noted on clinical and/or radiologic examination. The average age at identification of a first exostosis is three to four years with 96% of individuals with HME developing exostoses by the age of 12 (Schmale et al. 1994; Wicklund et al. 1995).
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Multiple Rib Exostoses in a Boy: A Rare CaseResulting in Surgery Secondary to Cosmetic Concerns
A seven year-old boy with several painless masses on the ribs and shoulder was referred to our hospital. The masses were so prominent that they prevented the child’s sleep. Since the patient had been ridiculed by his friends due to the rib prominences, he had refused to attend school. After clinical and radiological evaluations, the masses were diagnosed as hereditary multiple exostoses of the ...
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Hereditary multiple exostoses (HME) is a skeletal disorder which primarily affects enchondral bone during growth. It is characterised by multiple exostoses, usually arising in the juxtaepiphyseal region of the long bones. Exostoses that affect "almost every bone in the body" were first mentioned by John Hunter in his Lectures on the principles of surgery in 1786.1 The first family affected by H...
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