MULTIPLE CARTILAGINOUS EXOSTOSES (HEREDITARY DEFORMING CHONDRODYSPLASIA)
نویسندگان
چکیده
منابع مشابه
Severe Multiple Cartilaginous Exostoses
Multiple cartilaginous exostoses (MCE) is one of the most common inherited skeletal disorders. A collection of 1124 cases was reported by Stock and Barrington (1925). Recently other large series have been published by Solomon (1963) and Sauer (1979). Different terms have been used for it such as multiple exostoses, hereditary multiple exostoses and diaphyseal aclasis. The swelling or "lump" are...
متن کاملHereditary multiple exostoses.
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...
متن کاملManifestations of hereditary multiple exostoses.
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...
متن کاملMultiple cartilaginous exostoses and development of chondrosarcomas--a systematic review.
INTRODUCTION Hereditary multiple cartilaginous exostoses is a syndrome characterised by the development of multiple osteochondromas. The diagnosis is typically made around the age of 12 years, and the prevalence is estimated at 1:50,000. During skeletal growth, the osteochondromas are benign, but in adult life malignant transformation into chondrosarcomas can occur. METHODS This study was a l...
متن کاملThe Genetics of Hereditary Multiple Exostoses
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 outgrow...
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ژورنال
عنوان ژورنال: Annals of Surgery
سال: 1916
ISSN: 0003-4932
DOI: 10.1097/00000658-191602000-00005