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Hereditary multiple osteochondromas (HMO), also known as hereditary multiple exostoses, is a disorder characterized by the development of multiple benign osteocartilaginous masses in relation to the ends of long bones of the lower limbs such as the femurs and tibias and of the upper limbs such as the humeri and forearm bones.
Hereditary multiple exostoses (HME), also called hereditary multiple osteochondromas (HMO), is a condition that is estimated to affect 1 in 50,000 individuals. Multiple benign or noncancerous bone tumors develop in the affected individuals. The number and location vary among affected patients.
[4] [7] In hereditary multiple exostoses the indications of surgery are based upon multiple factors that are taken collectively, namely: patient's age, tumor location and number, accompanying symptomatology, esthetic concerns, proximity to vessels and nerves, family history and underlying gene mutation.
Hereditary multiple exostoses; Synovial osteochondromatosis; References. External links This page was last edited on 4 September 2021, at 16:03 (UTC). Text is ...
Misplacement in cartilage will result in cartilage tumor or tumors at the growth plates of long bones. This condition is known as hereditary multiple exostoses (HME) or hereditary multiple osteochondromas (HMO). [16] HME can also be the result of a mutation to the EXT1 gene or other EXT family genes. [17]
Metachondromatosis is an autosomal dominant, incompletely penetrant [2] genetic disease affecting the growth of bones, leading to exostoses primarily in the hands and feet as well as enchondromas of long bone metaphyses and iliac crests. [3]
Hereditary multiple exostoses is a genetic condition that is caused by growth irregularities of the epiphyseal plates of the long bones of the upper [10] and lower limbs. [11] It usually results in limb deformities and a certain degree of functional limitations.
Exostosin-1 is a protein that in humans is encoded by the EXT1 gene. [5]This gene encodes one of the two endoplasmic reticulum-resident type II transmembrane glycosyltransferase – the other being EXT2 – which are involved in the chain elongation step of heparan sulfate biosynthesis.