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There is controversy whether bone grows through Lrp5 through bone or the intestine. [25] The majority of the current data supports the concept that bone mass is controlled by LRP5 through the osteocytes. [26] Mice with the same Lrp5 gain-of-function mutations as also have high bone mass. [27] The high bone mass is maintained when the mutation ...
High bone density, Acro-osteolysis and obtuse mandibular angle are the characteristic radiological findings of this disorder. [10] Pycnodysostosis also causes problems that may become evident with time. Aside from the broken bones, the distal phalanges and the collar bone can undergo slow progressive deterioration.
Fibrodysplasia ossificans progressiva (/ ˌ f aɪ b r oʊ d ɪ ˈ s p l eɪ ʒ (i) ə ɒ ˈ s ɪ f ɪ k æ n z p r ə ˈ ɡ r ɛ s ɪ v ə /; [1] abbr. FOP), also called Münchmeyer disease or formerly myositis ossificans progressiva, is an extremely rare connective tissue disease in which fibrous connective tissue such as muscle, tendons, and ligaments turn into bone tissue (ossification).
This mutation causes bone deformities, fractures, and delayed tooth eruption. [73] Type XIII – OI caused by a mutation in the bone morphogenetic protein 1 (BMP1) gene on chromosome 8p21.3. [74] This mutation causes recurrent fractures, high bone mass, and hypermobile joints. [75] Type XIV – OI caused by mutations in the TMEM38B gene on ...
Mutations in the gene that encodes the sclerostin protein are associated with disorders associated with high bone mass, sclerosteosis and van Buchem disease. [9]van Buchem disease is an autosomal recessive skeletal disease characterized by bone overgrowth. [25]
Hajdu–Cheney syndrome, also called acroosteolysis with osteoporosis and changes in skull and mandible, arthrodentoosteodysplasia and Cheney syndrome, [1] is an extremely rare autosomal dominant congenital disorder [2] [3] of the connective tissue characterized by severe and excessive bone resorption leading to osteoporosis and a wide range of other possible symptoms.
Fibrous dysplasia is a very rare [2] nonhereditary genetic disorder where normal bone and marrow is replaced with fibrous tissue, resulting in formation of bone that is weak and prone to expansion. As a result, most complications result from fracture , deformity, functional impairment, pain, and the impingement of nerves. [ 3 ]
The resorbed bone is replaced and the marrow spaces are filled by an excess of fibrous connective tissue with a marked increase in blood vessels, causing the bone to become hypervascular. The bone hypercellularity may then diminish, leaving a dense "pagetic bone", also known as burned-out Paget's disease. A later phase of the disease is ...