Các osteochondroma đơn độc, một khối u phổ biến ở trẻ em xương, sụn mũ Is A exostosis. Exostosis nhiều rối loạn di truyền chi phối là An NST thường biểu hiện bằng sự hiện diện của nhiều osteochondromas. Liên kết liên quan đến phân tích ĐÃ đột biến trong các gia đình gen EXT, | Manifestations of Hereditary Multiple Exostoses Jonathan R. Stieber MD and John P. Dormans MD Abstract The solitary osteochondroma a common pediatric bone tumor is a cartilage-capped exostosis. Hereditary multiple exostosis is an autosomal dominant disorder manifested by the presence of multiple osteochondromas. Linkage analysis has implicated mutations in the EXT gene family resulting in an error in the regulation of normal chondrocyte proliferation and maturation that leads to abnormal bone growth. Although exostoses are benign lesions they are often associated with characteristic progressive skeletal deformities and may cause clinical symptoms. The most common deformities include short stature limb-length discrepancies valgus deformities of the knee and ankle asymmetry of the pectoral and pelvic girdles bowing of the radius with ulnar deviation of the wrist and subluxation of the radiocapitellar joint. For certain deformities surgery can prevent progression and provide correction. Patients with hereditary multiple exostosis have a slight risk of sarcomatous transformation of the cartilaginous portion of the exostosis. J Am Acad Orthop Surg 2005 13 110-120 Osteochondromas are common bone tumors seen in children and adolescents. These tumors consist of cartilage-capped exostoses found primarily at the metaphyses of the most rapidly growing ends of long 2 Most patients have only a solitary lesion but others may have hereditary multiple exostoses HME an autosomal dominant disorder manifested by multiple lesions that are more frequently associated with characteristic skeletal deformities. The first description of a patient with multiple exostoses is attributed to Hunter in his 1786 Lectures on the Principles of In 1814 Boyer published the first description of a family with HME followed by Guy s description of a second family in By the late 1800s most of the clinical aspects of the disease had been Ehrenfried introduced HME into
