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It results in the following signs, which can be extremely distressing to the patient: [4] Most frequent are symptoms due to conjunctival or corneal irritation: burning, photophobia, tearing, pain, and a gritty or sandy sensation. [4] Protruding eyeballs (known as proptosis and exophthalmos). Diplopia (double vision) is common. [4]
The collar bones are often underdeveloped and malformed. The nails are flat, grooved, and dysplastic. 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.
The impairment of bone metabolism causes inadequate bone mineralization. Osteomalacia in children is known as rickets, and because of this, use of the term "osteomalacia" is often restricted to the milder, adult form of the disease. Signs and symptoms can include diffuse body pains, muscle weakness, and fragility of the bones.
The affected bones show signs of dysregulated bone remodeling at the microscopic level, specifically excessive bone breakdown and subsequent disorganized new bone formation. [1] These structural changes cause the bone to weaken, which may result in deformity, pain, fracture or arthritis of associated joints. [1]
The mechanism behind how hypercalciuria causes increased bone resorption is still conflicting. A high animal protein diet causes increased bone resorption and bone loss rate. [8] The high level of calcitriol found in hypercalciuria patients mentioned earlier stimulates higher rates of bone resorption and lowers bone formation. [8]
In earlier stages, serum calcium, phosphate levels are normal at the expense of high parathyroid hormone and fibroblast growth factor-23 levels. X-rays will also show bone features of renal osteodystrophy (subperiostic bone resorption, chondrocalcinosis at the knees and pubic symphysis , osteopenia and bone fractures) but may be difficult to ...
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 ...
Metabolic bone disease is an abnormality of bones caused by a broad spectrum of disorders. Most commonly these disorders are caused by deficiencies of minerals such as calcium, phosphorus, magnesium or vitamin D leading to dramatic clinical disorders that are commonly reversible once the underlying defect has been treated.