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Diseases

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Paget disease (osteitis deformans; congenital hyperphosphatemia; hyperostosis corticalis deformans; pozzi syndrome; chronic congenital idiopathic hyperphosphatemia; osteochalasis desmalis familiaris; familial osteoectasia)


et Disease (Osteitis Deformans; Congenital Hyperphosphatemia; Hyperostosis Corticalis
Deformans; Pozzi Syndrome; Chronic Congenital Idiopathic Hyperphosphatemia; Osteochalasis
Desmalis Familiaris; Fami 515f54f lial Osteoectasia)

General: Autosomal dominant; more frequent in men, but more severe in women; onset after age 40 years; characterized by diffuse cortical thickening of involved bones with osteoporosis, bowing deformities, and shortening of stature; osteogenic sarcoma not infrequent.

Ocular: Shallow orbits with progressive unilateral or bilateral proptosis palsy of extraocular muscles; corneal ring opacities; cataract; retinal hemorrhages; pigmentary retinopathy; macular changes resembling Kuhnt-Junius degeneration; angioid streaks; papilledema; optic nerve atrophy; blue sclera; exophthalmos.



Clinical: Skull deformities; kyphoscoliosis; hypertension and arteriosclerosis; muscle weakness; waddling gait; hearing impairment; osteoarthritis.

Eretto P, et al. Optic neuropathy in et's disease. Am J Ophthalmol 1984; 97:505-510.

Hamdy RC, et al. Clinical presentation of et's disease of the bone in older patients. South Med J 1993; 86: 1097-l100.

Kheterpal S, et al. et's disease presenting with exophthalmos. Eye 1994; 8[Part 4]:480-481.

et J. On a form of chronic inflammation of bones (osteitis deformans). Med Chir Trans (Lond) 1877; 60:37.

Shilling JS, Blach RK. Prognosis and therapy of angioid streaks. Trans Ophthalmol Soc UK 1975; 95:301-306.

Simon RM. et's disease in the head and neck. Gerontology 1980; 26:155-l59.




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