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Radiology, Vol 125, 547-548, Copyright © 1977 by Radiological Society of North America

ARTICLES

Autosomal dominant osteosclerosis

RJ Gorlin and L Glass

Autosomal dominant osteosclerosis, an entity previously labelled by various names, is clearly separate from Van Buchem disease; Van Buchem disease exhibits autosomal recessive inheritance. The clinical manifestation of autosomal dominant osteosclerosis is a widened and deepened mandible with increased gonial angle. Radiographic manifestations include endosteal sclerosis of the neurocranium with loss of the diploe, osteosclerosis and hyperostosis of the mandible with absence of the normal antegonial notches, endosteal sclerosis of the diaphyses of long bones (including metacarpals and metatarsals), and osteosclerosis of the pelvis.


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L. M. Boyden, J. Mao, J. Belsky, L. Mitzner, A. Farhi, M. A. Mitnick, D. Wu, K. Insogna, and R. P. Lifton
High Bone Density Due to a Mutation in LDL-Receptor-Related Protein 5
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