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The mutation causes substitution of codon 206 from arginine to histidine in the ACVR1 protein. [11] [12] This substitution causes abnormal activation of ACVR1, leading to the transformation of connective tissue and muscle tissue into a secondary skeleton. This causes endothelial cells to transform to mesenchymal stem cells and then to bone. [13]
In bone, constitutive G s α signaling results in impaired differentiation and proliferation of bone marrow stromal cells. [14] Proliferation of these cells causes replacement of normal bone and marrow with fibrous tissue. The bony trabeculae are abnormally thin and irregular (bony spicules on biopsy). [citation needed]
Dysplasia is any of various types of abnormal growth or development of cells (microscopic scale) or organs (macroscopic scale), and the abnormal histology or anatomical structure(s) resulting from such growth. [1] Dysplasias on a mainly microscopic scale include epithelial dysplasia and fibrous dysplasia of bone.
Fibrous dysplasia causes bone thinning [13] and growths or lesions in one or more bones of the human body. These lesions are tumor-like growths that consist of replacement of the medullary bone with fibrous tissue, causing the expansion and weakening of the areas of bone involved. Especially when involving the skull or facial bones, the lesions ...
Characteristically exhibiting in the big toe at birth, it causes the formation of heterotopic bone throughout the body over the course of the sufferer's life, causing chronic pain and eventually leading to the immobilisation and fusion of most of the skeleton by abnormal growths of bone. [citation needed]
Osteopetrosis, literally ' stone bone ', also known as marble bone disease or Albers-Schönberg disease, is an extremely rare inherited disorder whereby the bones harden, becoming denser, in contrast to more prevalent conditions like osteoporosis, in which the bones become less dense and more brittle, or osteomalacia, in which the bones soften ...
Acromesomelic dysplasia is a rare skeletal disorder that causes abnormal bone and cartilage development, leading to shortening of the forearms, lower legs, hands, feet, fingers, and toes. [2] Five different genetic mutations have been implicated in the disorder.
Osteosclerosis is a disorder characterized by abnormal hardening of bone and an elevation in bone density. It may predominantly affect the medullary portion and/or cortex of bone. Plain radiographs are a valuable tool for detecting and classifying osteosclerotic disorders. [1] [2] It can manifest in localized or generalized osteosclerosis.