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Calcaneal Osteosarcoma Associated with Werner Syndrome A Case Report with Mutation Analysis*
Yoshiro Tsuji, M.D.†; Katsuyuki Kusuzaki, M.D.‡; Kyoseki Kanemitsu, M.D.§; Takehisa Matsumoto, PH.D., D.V.M.#; Yuichi Ishikawa, M.D.**; Yasusuke Hirasawa, M.D.‡
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Investigation performed at Yokaichi National Hospital, Shiga, Japan
*No benefits in any form have been received or will be received from a commercial party related directly or indirectly to the subject of this article. No funds were received in support of this study.
†Department of Orthopaedic Surgery, Seika National Health Insurance Hospital, 7 Sunakoda Hohzono, Seika-cho, Soraku-gun, Kyoto 619-0241, Japan.
‡Department of Orthopaedic Surgery, Kyoto Prefectural University of Medicine, 465 Kajiicho, Kawaramachi-Hirokoji Street, Kamigyo-ku, Kyoto 602-0841, Japan.
§Department of Orthopaedic Surgery, Yokaichi National Hospital, 255 Gochicho, Yokaichi, Shiga 527-8505, Japan.
#AGENE Research Institute, 200 Kajiwara, Kamakura, Kanagawa 247-0063, Japan.
**Department of Pathology, Cancer Institute, 1-37-1 Kami-ikebukuro, Toshima-ku, Tokyo 170-8455, Japan.

J Bone Joint Surg Am, 2000 Sep 01;82(9):1308-1308
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Extract

In 1934, Oppenheimer and Kugel established the eponym of Werner syndrome13. This disease, which occurs with equal frequency in males and females, usually becomes manifest in the decade after adolescence, when previously normal development is altered by graying of the hair, impairment of normal growth, and loss of subcutaneous tissue and muscle mass in the extremities. The limbs become slender, and the trunk becomes disproportionately stocky. The shiny, atrophic, hyperkeratotic skin, unpadded by subcutaneous fat, is pulled tightly over the osseous prominences. Painful, circumscribed callosities occur, especially on the soles of the feet, and indolent ulcers appear in the regions of the malleoli of the ankles, the Achilles tendons, and the heels and toes. Baldness appears, and the hair thins in the regions of the eyebrows, face, axillae, and pubis. The facial appearance is often characteristically altered as the taut skin of the cheeks causes beaking of the nose, as shallow orbits and loss of periorbital connective tissue produce the appearance of proptosis, and as artificial lenses are required after the extraction of rapidly progressing cataracts. A peculiar thickening and vascularity of the vocal cords is associated with a weak, high-pitched voice. Arteriosclerosis is strikingly premature, and sexual underdevelopment results in sterility. Diabetes mellitus is common, and the skeleton is frequently affected by osteoporosis and hypertrophic arthritis. The fully developed syndrome creates a remarkably constant picture of premature senility, short stature, slender extremities, a stocky trunk, a beak-nosed face, and scleroderma-like changes14.
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    These activities have been planned and implemented in accordance with the Essential Areas and policies of the Accreditation Council for Continuing Medical Education (ACCME) through the joint sponsorship of the American Academy of Orthopaedic Surgeons and The Journal of Bone and Joint Surgery, Inc. The American Academy of Orthopaedic Surgeons is accredited by the ACCME to provide continuing medical education for physicians.
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