Camurati-Engelmann disease, or diaphyseal dysplasia, is a very rare autosomal dominant condition often misdiagnosed as muscular dystrophy. The condition is actually a neuromuscular dystrophy which results in a characteristic "waddling" gait. Malnutrition is invariably associated with the disease.
Radiographically, the diaphyses of the long bones demonstrate endosteal and periosteal thickening. The epiphyses and metaphyses are spared.
REFERENCES
Vanhoenacker FM, De Beuckeleer LH, Van Hul W, Balemans W, Tan GJ, Hill SC, De Schepper AM. Sclerosing bone dysplasias: genetic and radioclinical features. Eur Radiol. 2000;10(9):1423-33.
Nicholls RD. The impact of genomic imprinting
for neurobehavioral and developmental disorders. J Clin Invest. 2000
Feb;105(4):413-8.
Eur Radiol. 2000;10(9):1423-33