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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.
The majority of these tumors are solitary non-hereditary lesions and approximately 15% of osteochondromas occur as hereditary multiple exostoses preferably known as hereditary multiple osteochondromas (HMOs). [4] [7] Osteochondromas do not result from injury and the exact cause remains unknown.
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]
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.
A buccal exostosis is an exostosis (bone prominence) on the buccal surface (cheek side) of the alveolar ridge of the maxilla or mandible. More commonly seen in the maxilla than the mandible, buccal exostoses are considered to be site specific. [ 2 ]
It is characterized by a deficiency in biliary copper excretion that causes deformations in the skeleton.These include projections on the back of the skull (parasagittal bone exostoses arising from the occipital bone—the so-called "occipital horns") as well as deformities of the elbow, radial head dislocation, hammer-shaped lateral ends of the clavicles, and abnormalities of the hips and ...
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]