Progressive diaphyseal dysplasia, since its original description by Engelmann in 1929,1 has been characterized by progressive osteosclerosis of the diaphyses of the long bones associated with neuromuscular abnormalities. An underdeveloped physical state with muscular weakness and a wide-based waddling gait has been a prominent and constant finding.2,3 Although muscle biopsies have been generally unrevealing,4,5 Singleton et al reported in 1956 the presence of atrophic muscle fibers with degenerative changes.6 Central nervous system (CNS) findings have included varied tendon reflex responses, ankle clonus, optic atrophy, and nystagmus.2,3,7,8 Lennon, Schechter, and Hornabrook 8 in 1961 attributed some of these neurological changes to narrowed cranial nerve exit foramina of the skull. Additional skeletal abnormalities have included prominent and symptomatic lordosis, scoliosis, flat feet, and knock-kneed and bowlegged deformities.4
Roentgenograms of the long bones have revealed symmetrical diaphyseal sclerosis bilaterally with thickening of the periosteum and endosteum.
Trunk G, Newman A, Davis TE. Progressive and Hereditary Diaphyseal Dysplasia: Engelmann's Disease. Arch Intern Med. 1969;123(4):417–422. doi:10.1001/archinte.1969.00300140063014
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