Engelmann syndrome (osteopathia hyperostotica [scleroticans] multiplex infantilis; diaphyseal dysplasia; camurati-engelmann disease; hereditary multiple diaphyseal sclerosis; juvenile paget disease)

General: Etiology unknown; progressive resorption and deposits of bone with thickening of periosteum and changes of cortex as evident by diagnostic x-ray studies in the intermediate portion of the long bones.

Ocular: Exophthalmos; hypertelorism (secondary); ptosis; lagophthalmos; lateral rectus palsy; convergence insufficiency; epiphora; cataract; tortuous retinal vessels; papilledema; optic atrophy.

Clinical: Pain in extremities; poorly developed musculature; waddling gait; delayed ambulation; scaly skin; delayed dentition; deafness; hypogonadism; pain in both legs; aching in the forearms; episodic temporofrontal and occipital headache.

Brodrick JD. Luxation of the globe in Engelmann's disease. Am J Ophthalmol 1977; 83:870-873.

DeVits A, et al. Progressive diaphyseal dysplasia (Camurati-Engelmann's disease). Improvement of clinical signs and of bone scintigraphy during pregnancy. Clin Nucl Med 1994; 19:104-l07.

Engelmann G. Ein Fall von Osteopathia Hyperostotica (Scleroticans) Infantilis. Fortschr Geb Roentgen Strahl 1929; 39:1101.

Morse PH, et al. Ocular findings in hereditary diaphyseal dysplasia (Engelmann's disease). Am J Ophthalmol 1969; 68:100.

Fraunfelder FT, Roy FH, eds. Current Ocular Therapy. 5th ed. Philadelphia: WB Saunders, 2000:247-248.